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Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy, a condition characterized by recurrent seizures. In MMPSI, specifically, partial seizures generally begin shortly after birth and are often not responsive to treatment. Although the seizures may occur relatively infrequently in the beginning, within a few months the frequency increases drastically with some affected people experiencing clusters of 5 to 30 seizures several times per day. Signs and symptoms associated with these episodes vary based on which part of the brain is affected during a given seizure. Although the seizures associated with MMPSI do eventually become less frequent, the long-term consequences of the condition may include profound developmental delay, microcephaly (unusually small head size), intellectual disability and a shortened lifespan (many do not survive past infancy or early childhood). Although the underlying cause of MMPSI is not fully understood, de novo mutations in certain genes have been identified in several affected people and are thought to be involved in the development of the condition. Even when a genetic cause is identified, most cases of MMPSI occur sporadically in people with no family history of the condition. Treatment is generally focused on minimizing recurrent seizures. Unfortunately, the seizures associated with MMPSI are usually not well-controlled with medications that are typically prescribed to treat epilepsy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Malignant migrating partial seizures of infancy
|
c3554195
| 27,100 |
gard
|
https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-partial-seizures-of-infancy
| 2021-01-18T17:59:15 |
{"omim": ["614959"], "orphanet": ["293181"], "synonyms": ["Malignant migrating focal seizures of infancy", "MPSI", "Migrating partial seizures of infancy", "Migrating partial epilepsy of infancy", "Malignant migrating partial epilepsy of infancy", "Epilepsy of infancy with migrating focal seizures", "MMPSI", "Early infantile epileptic encephalopathy 14", "MMPEI", "Migrating partial seizures in infancy", "EIEE14", "MPEI"]}
|
Process of blood loss, to a degree sufficient to cause death
"Bleeding out" redirects here. For Imagine Dragons' song, see Bleeding Out (song).
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Exsanguination is the loss of blood to a degree sufficient to cause death. Depending upon the age and health of the individual, people can die from losing half to two-thirds of their blood; a loss of roughly one-third of the blood volume is considered very serious. Even a single deep cut can warrant suturing and hospitalization, especially if trauma, a vein or artery, or another comorbidity is involved. The word originates from Latin.
## Contents
* 1 Slaughtering animals
* 1.1 In Jewish and Islamic slaughter
* 2 See also
* 3 References
## Slaughtering animals[edit]
15th-century depiction of exsanguination as part of Jewish ritual slaughter of animals for consumption
Exsanguination is used as a method of slaughter. Before the fatal incision is made, the animal will be rendered insensible to pain by various methods, including captive bolt, electricity, or chemical. Without prior sedation, stunning, or anesthetic, this method of slaughter causes a high degree of anxiety,[1] although other religiously funded studies contradict these findings.[2] Electricity is used mostly to incapacitate swine, poultry, and domestic sheep, whereas a chemical is used for injured livestock.[citation needed]
Continued pumping operation of the heart during exsanguination increases the rate of depletion, and thus hastens death, by raising the fluid pressure of the blood. Because the heart operates like a positive displacement pump, reduction of blood volume will not affect efficiency of cardiac output. Deprivation of blood to the heart does gradually result in diminished function, but concurrently with similar death of other parts in the body.[citation needed]
Quickly after the animal is incapacitated, it is put on the ground on top of an orange cloth, then a very sharp knife, in an orientation parallel to the ground, is inserted through the skin just in front of the point of the jaw and below the vertebrate. From this position, the knife is drawn forward away from the spine to sever the jugular veins, carotid arteries, and trachea. Properly performed, blood will flow freely and death will occur within seconds. Sheep and duck will reach heart and liver malfunction, leading to death, in under 10 seconds; larger animals, notably cattle may take up to 40 seconds to reach brain death. This period may extend to a couple of minutes if complications, such as arterial occlusion, occur. However, the animal's inverted position allows blood to flow more precipitously and thus makes an animal regaining consciousness before it is fully exsanguinated highly unlikely. In any case, animal welfare advisory councils clearly emphasize that the time from incapacitation to start of exsanguination should be prompt, recommending a time under 15 seconds.[3]
Beyond the initial cost of purchasing a captive bolt, continued usage of the method is very inexpensive. The animal is incapacitated for the duration of the procedure, so it is one of the safest methods for the slaughterer.
### In Jewish and Islamic slaughter[edit]
Jewish kashrut (kosher) and Islamic dhabihah (halal) dietary laws mandate that slaughter is performed with a cut that immediately severs the esophagus, trachea, and the large blood vessels in the neck, causing loss of consciousness and death by exsanguination. The double-edged pointed knife is prohibited. Instead, a long knife with a squared off end is used that in Jewish law must be at least twice the width of the animal's neck. The operation of sticking or exsanguination is executed faster than when using the pointed knife, as four large blood vessels in the neck are severed simultaneously.
In Islamic and Jewish law, captive bolts and other methods of pre-slaughter paralysis are not permissible, as consumption of animals found dead are regarded as carrion and stunned animals that are later killed fall into this category.[citation needed] Various halal food authorities have more recently permitted the use of a recently developed fail-safe system of head-only stunning using a mushroom shaped hammer head that delivers a blow that is not fatal, proved by it being possible to reverse the procedure and revive the animal after the shock.[4]
Such methods, particularly involving unstunned animals, have been criticized by veterinarians and animal welfare organizations, among others. Prohibitions against unstunned slaughter have been enacted in several countries. See Animal welfare controversies in shechita for further information.
## See also[edit]
* Hypovolemia, blood volume loss
* Desanguination
* Slaughterhouse
* Tourniquet
## References[edit]
1. ^ AVMA Guidelines for the Euthanasia of Animals: 2013 Edition (PDF). American Veterinary Medical Association. 2013. ISBN 978-1-882691-21-0.
2. ^ Schulze W, Schultze-Petzold H, Hazem AS, Gross R. Experiments for the objectification of pain and consciousness during conventional (captive bolt stunning) and religiously mandated ("ritual cutting") slaughter procedures for sheep and calves. Deutsche Tierärztliche Wochenschrift 1978 February 5;85(2):62-6. English translation by Dr Sahib M. Bleher
3. ^ "Report on the Welfare of Farmed Animals at Slaughter or Killing. Part 1: Red Meat Animals" (PDF). Defra. 2003. Archived from the original (PDF) on 2012-10-07.
4. ^ Masood Khawaja (6 October 2001). "Definition of Halal". Halal Food Authority. Archived from the original on 27 April 2009. Retrieved 2011-10-24.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Exsanguination
|
c0232100
| 27,101 |
wikipedia
|
https://en.wikipedia.org/wiki/Exsanguination
| 2021-01-18T18:39:18 |
{"mesh": ["D058734"], "wikidata": ["Q4241510"]}
|
## Description
Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).
### Genetic Heterogeneity of Familial Atrial Fibrillation
ATFB1 shows linkage to chromosome 10q22-q24. ATFB2 (608988) maps to chromosome 6q. ATFB3 (607554) is caused by mutation in the KCNQ1 gene (607542) on chromosome 11. ATFB4 (611493) is caused by mutation in the KCNE2 gene (603796) on chromosome 21. Variants in a region of chromosome 4q25 are associated with ATFB5 (611494). ATFB6 (612201) is caused by mutation in the NPPA gene (108780) on chromosome 1p36. ATFB7 (612240) is caused by mutation in the KCNA5 gene (176267) on chromosome 12p13. ATFB8 (613055) maps to chromosome 16q22. ATFB9 (613980) is caused by mutation in the KCNJ2 gene (600681) on chromosome 17q24.3. ATFB10 (614022) is caused by mutation in the SCN5A gene (600163) on chromosome 3p21. ATFB11 (614049) is caused by mutation in the GJA5 (121013) gene on chromosome 1q21.1. ATFB12 (614050) is caused by mutation in the ABCC9 gene (601439) on chromosome 12p12.1. ATFB13 (615377) is caused by mutation in the SCN1B gene (600235) on chromosome 19q13. ATFB14 (615378) is caused by mutation in the SCN2B gene (601327) on chromosome 11q23. ATFB15 (615770) is caused by mutation in the NUP155 gene (606694) on chromosome 5p13. ATFB16 (see 613120) is caused by mutation in the SCN3B gene (608214) on chromosome 11q24. ATFB17 (see 611819) is caused by mutation in the SCN4B gene (608256) on chromosome 11q23. ATFB18 (617280) is caused by mutation in the MYL4 gene (160770) on chromosome 17q21.
Olesen et al. (2014) analyzed 192 Danish Caucasian patients with onset of lone atrial fibrillation before the age of 40 years for the presence of rare variants in 14 AF-associated genes and found that 29 (7.6%) alleles harbored a very rare variant (minor allele frequency less than 1%), a significantly higher percentage than that found in 6,503 individuals in the NHLBI Exome Variant Server database (4.1%; p = 0.0012). Twenty-four of the 29 rare variants found in the lone AF patient cohort had previously been studied, with 23 (96%) showing abnormal ion channel function by patch-clamp analysis. Olesen et al. (2014) suggested that rare variants in AF susceptibility genes may play a role in the pathophysiology of AF.
Clinical Features
Brugada et al. (1997) reported a Spanish family in which 10 members spanning 3 generations had atrial fibrillation segregating as an autosomal dominant trait. Nine family members had chronic atrial fibrillation and 1 had paroxysmal atrial fibrillation. Two additional members were known to have died from complications of atrial fibrillation, presumably embolic cerebrovascular accidents, at 36 and 68 years of age. Brugada et al. (1997) also reported 2 other Spanish families with a total of 9 affected members. The age at diagnosis of atrial fibrillation ranged from 2 to 46 years in the 3 families.
Pathogenesis
Tsai et al. (2008) reviewed the mechanisms underlying atrial fibrillation and the loci and genes associated with familial and nonfamilial atrial fibrillation. The data suggested that genes related to ionic channels, calcium-handling proteins, fibrosis, conduction, and inflammation play important roles in the pathogenesis of common atrial fibrillation.
Mapping
In a Spanish family with 26 living members, 10 of whom had atrial fibrillation, Brugada et al. (1997) identified a disease locus at chromosome 10q22-q24 (lod score of 3.60 at markers D10S569 and D10S607). Two other families with 5 and 4 cases of atrial fibrillation, respectively, showed linkage to the same markers; lod scores of 6.02 and 5.35 for markers D10S569 and D10S607, respectively, were obtained when data on all 3 families were combined. The results were obtained by pooling the DNA of affected family members and comparing the results of the DNA analysis to those of an analysis of pooled DNA from unaffected family members at each of many marker loci. By this method, they identified 4 potential loci before performing conventional linkage analysis. Brugada et al. (1997) pointed out that the genes for the beta-adrenergic receptor (ADRB1; 109630) and alpha-adrenergic receptor (ADRA2; 104210) are located on 10q24-q26 as is also a gene for G protein-coupled receptor kinase (GPRK5; 600870), which interacts with adrenergic receptors. These are candidate genes for the site of the mutation in the linked families.
### Associations Pending Confirmation
In a metaanalysis of genomewide association studies conducted using 1,335 individuals with lone atrial fibrillation and 12,844 unaffected individuals, Ellinor et al. (2010) identified an association on chromosome 1q21.3 to lone AF. The most significant SNP was rs13376333 (adjusted odds ratio, 1.56; p = 6.3 x 10(-12)), located in intron 1 of the KCNN3 gene (602983). The association was replicated in 2 independent lone AF cohorts (combined p = 1.83 x 10(-21); odds ratio, 1.52). Ellinor et al. (2010) noted that although KCNN3 is a plausible candidate gene for lone AF, the associated SNPs may lie within or serve as proxies for noncoding regulatory elements that might affect gene expression at considerable distances from their genomic locations. See also ATFB11 (614049) on chromosome 1q21.1.
Inheritance
Ellinor et al. (2005) performed a family study to evaluate the increased relative risk of 'lone' (i.e., isolated) atrial fibrillation. They found that family members had an increased relative risk of atrial fibrillation compared to the general population (risk ratio; 95% confidence intervals): sons (8.1; 2.0-32), daughters (9.5; 1.3-67), brothers (70; 47-102), sisters (34; 14-80), mothers (4.0; 2.5-6.5), and fathers (2.0; 1.2-3.6). The findings were interpreted as indicating a mendelian genetic contribution to the etiology of this common trait.
INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Atrial fibrillation, isolated \- Rapid heart beat \- Irregular heart beat \- Thromboembolic stroke may occur MISCELLANEOUS \- Average age at diagnosis 17.8 years (range 2-35 years) \- Genetic heterogeneity (see, e.g., ATFB3, 607554 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
ATRIAL FIBRILLATION, FAMILIAL, 1
|
c1843687
| 27,102 |
omim
|
https://www.omim.org/entry/608583
| 2019-09-22T16:07:37 |
{"doid": ["0050650"], "mesh": ["C538261"], "omim": ["608583"], "orphanet": ["334"], "synonyms": ["Alternative titles", "ATRIAL FIBRILLATION, AUTOSOMAL DOMINANT"]}
|
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Split hand-split foot-deafness syndrome
|
c1857344
| 27,103 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71271
| 2021-01-23T16:59:18 |
{"mesh": ["C565647"], "omim": ["220600"], "umls": ["C1857344"], "icd-10": ["Q87.2"], "synonyms": ["Split hand-split foot-hearing loss syndrome"]}
|
Arakawa's syndrome II
Other namesMethionine synthase deficiency, Tetrahydrofolate-methyltransferase deficiency syndrome, and N5-methylhomocysteine transferase deficiency.[1]
methylcobalamin
Arakawa's syndrome II[2] is an autosomal dominant metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase; affected individuals cannot properly metabolize methylcobalamin, a type of Vitamin B12.
## Contents
* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 4 Management
* 5 Eponym
* 6 References
* 7 External links
## Presentation[edit]
This disorder causes neurological problems, including intellectual disability, brain atrophy and ventricular dilation, myoclonus, hypotonia, and epilepsy.[citation needed]
It is also associated with growth retardation, megaloblastic anemia, pectus excavatum, scoliosis, vomiting, diarrhea, and hepatosplenomegaly.[citation needed]
## Genetics[edit]
Arakawa's syndrome II has an autosomal dominant pattern of inheritance.
Arakawa's syndrome II is inherited in an autosomal dominant manner. This means the defective gene responsible for disorder is located on an autosome, and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder.[citation needed]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (October 2017)
## Management[edit]
This section is empty. You can help by adding to it. (October 2017)
## Eponym[edit]
It is called "Arakawa syndrome 2" after Tsuneo Arakawa (1949–2003), a Japanese Physician.;[2][3] in this context, "Arakawa syndrome 1" refers to Glutamate formiminotransferase deficiency.
## References[edit]
1. ^ Online Mendelian Inheritance in Man (OMIM): 156570
2. ^ a b synd/235 at Who Named It?
3. ^ Arakawa T; et al. (1967). "Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methanphetimite transferase deficiency". Tohoku J. Exp. Med. 93 (1): 1–22. doi:10.1620/tjem.93.1. PMID 5300832.
## External links[edit]
Classification
D
* OMIM: 156570
* MeSH: C537426
* DiseasesDB: 32787
* Arakawa's syndrome 2 at NIH's Office of Rare Diseases
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Arakawa's syndrome II
|
c0268611
| 27,104 |
wikipedia
|
https://en.wikipedia.org/wiki/Arakawa%27s_syndrome_II
| 2021-01-18T18:54:00 |
{"mesh": ["C537426"], "umls": ["C0268611"], "wikidata": ["Q4783806"]}
|
Neuropsychiatric systemic lupus erythematosus
Other namesCNS lupus, lupus cerebritis
SpecialtyRheumatology, Neurology
Neuropsychiatric systemic lupus erythematosus or NPSLE refers to the neurological and psychiatric manifestations of systemic lupus erythematosus. SLE is a disease in which the immune system attacks the body's own cells and tissues. It can affect various organs or systems of the body. It is estimated that over half of people with SLE have neuropsychiatric involvement.[1]
## Contents
* 1 Classification
* 1.1 Other syndromes
* 2 Pathogenesis
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
## Classification[edit]
The American College of Rheumatology (ACR) has outlined 19 syndromes that are seen in NPSLE. These syndromes encompass disorders of the central and peripheral nervous systems:[2]
Central nervous system
* Aseptic meningitis
* Cerebrovascular disease
* Demyelinating syndrome
* Headache
* Movement disorder
* Myelopathy
* Seizure disorders
* Acute confusional state
* Anxiety disorder
* Cognitive dysfunction
* Mood disorder
* Psychosis
Peripheral nervous system
* Acute inflammatory demyelinating polyradiculoneuropathy
* Autonomic disorder
* Mononeuropathy (single/multiplex)
* Myasthenia gravis
* Cranial neuropathy
* Plexopathy
* Polyneuropathy
Each of the 19 syndromes are also stand-alone diagnoses, which can occur with or without lupus.
The majority of cases involve the central nervous system (CNS), which consists of the brain and spinal cord.[2] The most common CNS syndromes are headache and mood disorder.[1]
Though neuropsychiatric lupus is sometimes referred to as "CNS lupus", it can also affect the peripheral nervous system (PNS). Between 10-15% of people with NPSLE have PNS involvement.[3] Mononeuropathy and polyneuropathy are the most common PNS syndromes.[1]
### Other syndromes[edit]
Some neurological syndromes outside of the ACR classification may also be considered NPSLE manifestations. These include neuromyelitis optica, posterior reversible encephalopathy syndrome, small fiber neuropathy,[4] and Lambert–Eaton myasthenic syndrome.[5]
## Pathogenesis[edit]
There are several possible mechanisms that underlie the nervous system manifestations of lupus. Specific syndromes may be vasculopathic, autoantibody-mediated, or inflammatory in nature.
There is evidence that the blood–brain barrier, which protects the central nervous system, is compromised in patients with NPSLE. As a result of this, autoantibodies are able to infiltrate the CNS and cause damage.[6]
## Diagnosis[edit]
For diagnosis of NPSLE, it must be determined whether neuropsychiatric symptoms are indeed caused by SLE, whether they constitute a separate comorbid condition, or whether they are an adverse effect of disease treatment. In addition, onset of neuropsychiatric symptoms may happen prior to the diagnosis of lupus.[7] Due to the lack of uniform diagnostic standards, statistics about NPSLE vary widely.[8]
Tests which aid in diagnosis include MRI, electrophysiological studies, psychiatric evaluation, and autoantibody tests.[9]
## Treatment[edit]
Management of neuropsychiatric lupus is similar to the management of neuropsychiatric disease in patients without lupus. Treatment depends on the underlying causes of a patient’s disease, and may include immunosuppressants, anticoagulants, and symptomatic therapy.[9]
## See also[edit]
* Lupus headache
## References[edit]
1. ^ a b c Unterman, Avraham; Nolte, Johannes ES; Boaz, Mona; Abady, Maya; Shoenfeld, Yehuda; Zandman-Goddard, Gisele (August 2011). "Neuropsychiatric Syndromes in Systemic Lupus Erythematosus: A Meta-Analysis". Seminars in Arthritis and Rheumatism. 41 (1): 1–11. doi:10.1016/j.semarthrit.2010.08.001. ISSN 0049-0172. PMID 20965549.
2. ^ a b Liang, Matthew H; Corzillius, Michael; Bae, Sang Cheol; Lew, Robert A; Fortin, Paul R; et al. (April 1999). "The American College of Rheumatology nomenclature and case definitions for neuropsychiatric lupus syndromes". Arthritis and Rheumatism. 42 (4): 599–608. doi:10.1002/1529-0131(199904)42:4<599::AID-ANR2>3.0.CO;2-F. ISSN 0004-3591. PMID 10211873.
3. ^ Kivity, Shaye; Agmon-Levin, Nancy; Zandman-Goddard, Gisele; Chapman, Joab; Shoenfeld, Yehuda (March 2015). "Neuropsychiatric lupus: a mosaic of clinical presentations". BMC Medicine. 13 (1): 43. doi:10.1186/s12916-015-0269-8. ISSN 1741-7015. PMC 4349748. PMID 25858312.
4. ^ Bortoluzzi, Alessandra; Scirè, Carlo Alberto; Govoni, Marcello (14 March 2018). "Attribution of Neuropsychiatric Manifestations to Systemic Lupus Erythematosus". Frontiers in Medicine. 5: 68. doi:10.3389/fmed.2018.00068. PMC 5861139. PMID 29594125.
5. ^ West, Sterling G; Hanly, John G (2019). "Lupus and the Nervous System: Clinical Aspects, Psychopathology, and Imaging". In Wallace, Daniel J; Hahn, Bevra Hannahs (eds.). Dubois' Lupus Erythematosus and Related Syndromes (Ninth ed.). Elsevier. pp. 434–456. doi:10.1016/B978-0-323-47927-1.00036-0. ISBN 978-0-323-47927-1.
6. ^ Stock, Ariel D; Wen, Jing; Putterman, Chaim (December 2013). "Neuropsychiatric lupus, the blood brain barrier, and the TWEAK/Fn14 pathway". Frontiers in Immunology. 4: 484. doi:10.3389/fimmu.2013.00484. ISSN 1664-3224. PMC 3872310. PMID 24400009.
7. ^ Bertsias, GK; Ioannidis, JPA; Aringer, M; Bollen, E; Bombardieri, S; et al. (2010). "EULAR recommendations for the management of systemic lupus erythematosus with neuropsychiatric manifestations: report of a task force of the EULAR standing committee for clinical affairs". Annals of the Rheumatic Diseases. 69 (12): 2074–2082. doi:10.1136/ard.2010.130476. ISSN 0003-4967. PMID 20724309.
8. ^ Gulinello, Maria; Wen, Jing; Putterman, Chaim (September 2012). "Neuropsychiatric Symptoms in Lupus". Psychiatric Annals. 42 (9): 322–328. doi:10.3928/00485713-20120906-05. PMC 4302271. PMID 25620816.
9. ^ a b Magro-Checa, Cesar; Zirkzee, Elisabeth J; Huizinga, Tom W; Steup-Beekman, Gerda M (2016). "Management of Neuropsychiatric Systemic Lupus Erythematosus: Current Approaches and Future Perspectives". Drugs. 76 (4): 459–483. doi:10.1007/s40265-015-0534-3. ISSN 0012-6667. PMC 4791452. PMID 26809245.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Neuropsychiatric systemic lupus erythematosus
|
c0752332
| 27,105 |
wikipedia
|
https://en.wikipedia.org/wiki/Neuropsychiatric_systemic_lupus_erythematosus
| 2021-01-18T18:49:47 |
{"mesh": ["D020945"], "wikidata": ["Q9358981"]}
|
This form of split-hand/foot malformation with long bone deficiency (SHFLD1) maps to chromosome 1q42.2-q43.
See also SHFLD2 (610685), which maps to chromosome 6q14.1, and SHFLD3 (612576), which maps to chromosome 17p13.3-p13.1. Split-hand/foot malformation with fibular hypoplasia/aplasia has also been reported, see 113310.
Clinical Features
Roberts (1967) described a family in which persons in 4 generations had one cleft hand with a missing middle finger and flexed ring finger; one person also had grossly deformed legs with missing tibias requiring amputation and a sib had only the severe leg deformity. Another member had absent forearms with the leg deformity. Majewski et al. (1985) stated that this disorder was first described by Otto in 1850 in a fetus and that the first familial instance was published by White and Baker (1888).
Majewski et al. (1985) reported 6 families and concluded that the disorder is autosomal dominant with markedly reduced penetrance. In addition to bilateral aplasia of the tibias and split-hand/split-foot deformity (the full-blown syndrome), malformations may include distal hypoplasia or bifurcation of the femurs, hypo- or aplasia of the ulnas, and minor anomalies such as aplasia of the patellas, hypoplastic big toes, and cup-shaped ears. They stated that the mildest visible manifestation may be hypoplastic big toes, whereas the severest is tetramonodactyly or transverse hemimelia.
Sener et al. (1989) described a 19-year-old man with bilateral involvement of the hands and legs. His parents were first cousins. A great-great-grandfather through both his mother and his father was said to have had grossly deformed legs with unilateral split-hand. Der Kaloustian and Mnaymneh (1973) described this syndrome in the offspring of parents related as first cousins once removed. Another member of the family related as a first cousin to the proband's mother and as a first cousin once removed to the proband's father was identically affected.
Naveed et al. (2006) described an 8-generation consanguineous Arab family with multiple severe limb anomalies resembling ectrodactyly with aplasia of the long bones. Eighteen of 23 affected individuals had tibial aplasia, mostly unilateral and on the right side. Expression of the phenotype was variable and included ectrodactyly, syndactyly, camptodactyly, short femur, and clubfoot, with or without bilateral or unilateral tibial aplasia. The mode of inheritance appeared to be autosomal dominant with reduced penetrance.
Inheritance
Hoyme et al. (1987) described 4 families in which multiple members were affected with ectrodactyly and/or tibial hypoplasia/aplasia; multiple obligate carriers in each family were unaffected. The authors concluded that ectrodactyly associated with long bone deficiency is an autosomal dominant trait with widely variable expression or nonpenetrance.
Both Sener et al. (1989) and Der Kaloustian and Mnaymneh (1973) favored autosomal dominant inheritance with reduced penetrance, despite the consanguinity in these families.
Zlotogora (1994) analyzed published pedigrees with nonsyndromal ectrodactyly and other limb defects (usually tibial aplasia or hypoplasia) in at least one family member. In this group of families, penetrance was only 0.66. Sometimes obligatory carriers of the gene were unaffected for several generations. To explain this phenomenon, Zlotogora (1994) proposed the influence of another gene and raised the possibility of trinucleotide repeat expansion.
Majewski et al. (1996) examined the question of the existence of a recessive form of ectrodactyly and absence (hypoplasia) of the tibia. They presented a kindred of brother, sister, and cousin with ectrodactyly and hypoplasia of the tibia. The parents of the cousin were consanguineous; the parents of the sibs originated from the same small Algerian village. They also reported a boy with tibial defect and split hands and feet with consanguineous parents. Although the observations suggested an autosomal recessive form of ectrodactyly, review of these and previously reported cases did not demonstrate any clinical differences between the seemingly recessive and the dominant types. Statistical analysis of 17 families with affected sibs and normal parents showed a 1:3.1 ratio of affected to unaffected by the proband method. Despite consanguinity among 9 sets of parents, this ratio and data from approximately 30 additional reported families generally favor autosomal dominant inheritance with reduced penetrance.
Witters et al. (2001) presented further evidence for autosomal recessive inheritance. A consanguineous Turkish couple gave birth to 3 children with malformations. The first, a boy, died neonatally of pulmonary hypertension with congenital alveolar capillary dysplasia (265380) and also had tibial agenesis and ectrodactyly. The second child, a girl, died after birth with the same abnormality of the lungs without skeletal malformations. After the birth of 3 unaffected children, echographic examination at 15 weeks of gestation in the sixth pregnancy documented agenesis of the tibias and symmetric ectrodactyly of the hands and feet. Autopsy did not show additional malformations, and lung development was normal for gestational age. This observation also confirmed the autosomal recessive inheritance pattern of congenital alveolar capillary dysplasia.
Naveed et al. (2007) presented evidence for 2 susceptibility loci in the same family, and hypothesized that SHFLD could fit the model of digenic inheritance.
Mapping
One form of ectrodactyly (absence of the middle rays, i.e., the central digits of the hands and/or feet) results from mutation at a locus (SHFM1; 183600) in 7q21.2-q22.1. Marinoni et al. (1994) described a large family in which ectrodactyly was associated with long bone deficiency in the form of aplasia of bones of the lower leg or forearm in an autosomal dominant pattern. Linkage to markers in the 7q21-q22 region was excluded.
Naveed et al. (2006) analyzed 18 microsatellite markers from chromosomes 7p13, 7q36, 8q24.1 and 10q24 in an 8-generation consanguineous Arab family with ectrodactyly and aplasia of the long bones, but found no significant evidence of linkage under both autosomal dominant and recessive models.
Naveed et al. (2007) conducted a genomewide linkage analysis using a 10K SNP array in a large consanguineous family from the United Arab Emirates, previously reported by Naveed et al. (2006), and identified 2 novel SHFLD susceptibility loci, one at 1q42.2-q43 (SHFLD1) and another at 6q14.1 (SHFLD2; 610685). These results were supported by multipoint parametric linkage analysis. Maximum multipoint lod scores of 3.20 and 3.78 were detected for the 2 locations on 1q and 6q, respectively, with the use of an autosomal dominant mode of inheritance with reduced penetrance. Haplotype analysis with informative crossovers enabled mapping of SHFLD1 to a region between single-nucleotide polymorphisms rs1124110 and rs535043 on 1q42.2-q43. Naveed et al. (2007) hypothesized that SHFLD could fit the model of digenic inheritance.
Cytogenetics
Babbs et al. (2007) reported a patient with SHFLD manifested as oligodactyly of the hands with multiple absent phalanges and complete absence of the first ray of the right hand. A single toe was present on each foot, and there was bilateral shortening of the tibiae associated with bilateral patellar dislocation and a bowed fibula on 1 leg. Metaphyses of the femur showed distal flaring. Molecular analysis revealed a de novo translocation t(2;18)(q14.2;p11.2). Characterization of the breakpoints revealed that neither disrupted any known gene. Analysis of several candidate genes within the 2q region showed no abnormalities in 44 additional patients with SHFM, SHFLD, or long bone deficiency. The chromosome 2q14.2 breakpoint coincides with the homologous region of the mouse to which the 'dominant hemimelia' (Dh) limb formation has been mapped (see 131290). Babbs et al. (2007) postulated that the 2q14.2 region may represent a novel locus for SHFLD and that the translocation disrupted a putative long-acting cis regulatory element.
Limbs \- Cleft hand \- Absent middle finger \- Flexed ring finger \- Absent tibia \- Absent forearm \- Tetramonodactyly \- Transverse hemimelia \- Hypoplastic big toes Radiology \- Distal hypoplasia or bifurcation of the femurs \- Ulnar hypoplasia/aplasia \- Patellar aplasia Inheritance \- Autosomal dominant Ears \- Cup-shaped ears ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1
|
c1861553
| 27,106 |
omim
|
https://www.omim.org/entry/119100
| 2019-09-22T16:43:16 |
{"mesh": ["C536425"], "omim": ["119100"], "orphanet": ["3329"], "synonyms": ["Alternative titles", "SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY", "CLEFT HAND AND ABSENT TIBIA", "APLASIA OF TIBIA WITH ECTRODACTYLY", "TIBIAL APLASIA WITH SPLIT-HAND/SPLIT-FOOT DEFORMITY", "ECTRODACTYLY WITH APLASIA OF LONG BONES"]}
|
Propionic acidemia is an inherited condition in which the body can’t breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and to bouts of serious illness called decompensation events or metabolic crises. Symptoms of a decompensation event include poor feeding, vomiting, weak muscle tone (hypotonia), and lack of energy (lethargy). This usually occurs within the first few days after birth. Without early diagnosis and treatment, these symptoms may lead to more serious medical problems, including heart abnormalities, seizures, intellectual disability, coma, and possibly death. Propionic acidemia is caused by changes (mutations) in the PCCA and PCCB genes and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, blood and urine testing, and may be confirmed by the results of genetic testing. Treatment includes aggressive management of decompensation events, a special protein-restricted diet and medications.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Propionic acidemia
|
c0268579
| 27,107 |
gard
|
https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia
| 2021-01-18T17:58:08 |
{"mesh": ["D056693"], "omim": ["606054"], "orphanet": ["35"], "synonyms": ["Propionyl-CoA carboxylase deficiency", "PCC deficiency", "Glycinemia, ketotic", "Hyperglycinemia with ketoacidosis and leukopenia", "Ketotic hyperglycinemia", "Ketotic glycinemia", "PROP", "Propionicacidemia"]}
|
A number sign (#) is used with this entry because of evidence that this neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is caused by heterozygous mutation in the RERE gene (605226) on chromosome 1p36.
Description
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (607872); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).
Clinical Features
Fregeau et al. (2016) reported 10 unrelated children with a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and autistic spectrum disorder, variably associated with additional congenital abnormalities. Two of the patients were previously reported (Krumm et al., 2015; Bosch et al., 2016). Features included intrauterine or postnatal growth retardation, feeding difficulties, hypotonia, and behavioral problems. Four patients had variable ophthalmologic abnormalities, including microphthalmia, iris anomalies, coloboma, Peter anomaly, optic atrophy, cortical visual impairment, strabismus, and blepharophimosis. Four patients had congenital heart defects, most commonly ventricular septal defect, and 5 patients had genitourinary defects, including vesicoureteral reflux, cryptorchidism, and hypospadias. Dysmorphic features, seen only in a few individuals, included frontal bossing, low-set, posteriorly rotated ears, epicanthal folds, anteverted nares, micrognathia, and broad eyebrows. Brain imaging in most patients showed ventriculomegaly, thin corpus callosum, small cerebellar vermis, and decreased white matter. Fregeau et al. (2016) found that the majority of features identified in the 10 patients overlapped with those observed in 31 individuals with 1p36 deletions involving RERE.
Molecular Genetics
Fregeau et al. (2016) reported 10 unrelated patients with NEDBEH who carried a heterozygous mutation in the RERE gene (see, e.g., 605226.0001-605226.0004). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, occurred de novo in all cases in which parental DNA was available. The mutations clustered throughout the gene and included both missense and truncating mutations; functional studies of the variants and studies of patient cells were not performed. However, Fregeau et al. (2016) noted that mice with Rere mutations showed a similar phenotype (see ANIMAL MODEL). At least 3 patients (patients 2, 4, and 7) had variants in other genes that may or may not have contributed to the phenotype. Fregeau et al. (2016) suggested that haploinsufficiency of RERE may be sufficient to cause many of the phenotypes associated with proximal 1p36 deletions. One of the patients (patient 10) had previously been reported by Krumm et al. (2015).
Animal Model
Kim et al. (2013) noted that mice homozygous for a null Rere allele died between E9.5 and E11.5 from failure of cardiac looping and subsequent cardiac failure. These embryos also had defects in somitogenesis, fusion of the telencephalic vesicles, defects of the optic vesicles and failure of anterior neural tube closure, and were given the name 'openmind' (om). Studies of these mice indicated that loss of Rere interfered with retinoic acid signaling and embryonic development. Kim et al. (2013) generated an allelic series of Rere-deficient mice using the 'om' allele and a hypomorphic Rere allele, termed 'eyes3' because it resulted in autosomal recessive microphthalmia. Mice compound heterozygous for both mutations had a high level of perinatal mortality, postnatal growth deficiency, brain hypoplasia, decreased numbers of hippocampal neurons, hearing loss, cardiovascular malformations, spontaneous development of cardiac fibrosis in adulthood, and renal agenesis. These findings suggested that Rere plays a critical role in the development and function of multiple organs including the eye, brain, inner ear, heart, and kidney. Kim et al. (2013) suggested that haploinsufficiency of RERE may contribute to the development of many of the phenotypes seen in human patients with 1p36 deletions. In a follow-up report, Fregeau et al. (2016) observed that om/eye3 compound heterozygous mice also had ventriculomegaly and incomplete closure of the optic fissure, suggestive of coloboma.
Kim and Scott (2014) specifically examined cerebellar development in the compound heterozygous Rere hypomorphic mice originally studied by Kim et al. (2013). Mutant mice showed pre- and postnatal delayed development of the principal fissures in the cerebellum, which was associated with decreased proliferative activity of granule cell precursors and delayed maturation and migration of Purkinje cells. These abnormalities were associated with a decrease in the expression of SHH (600725), which is secreted from Purkinje cells and is required for normal proliferation.
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Intrauterine growth retardation \- Poor postnatal growth HEAD & NECK Face \- Frontal bossing \- Micrognathia Ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Microphthalmia \- Optic atrophy \- Coloboma \- Peter anomaly \- Iris abnormalities \- Blepharophimosis \- Strabismus \- Downslanting palpebral fissures \- Epicanthal folds \- Broad eyebrows Nose \- Anteverted nares CARDIOVASCULAR Heart \- Congenital heart defects (40% of patients) \- Ventricular septal defect ABDOMEN Gastrointestinal \- Poor feeding \- Gastroesophageal reflux GENITOURINARY External Genitalia (Male) \- Hypospadias Internal Genitalia (Male) \- Cryptorchidism Kidneys \- Cystic kidney Bladder \- Vesicoureteral reflux MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Global developmental delay \- Dysarthria \- Cerebellar vermis hypoplasia \- Thin corpus callosum \- Ventriculomegaly \- Decreased white matter volume Behavioral Psychiatric Manifestations \- Behavioral abnormalities \- Autism spectrum disorder MISCELLANEOUS \- Onset in infancy \- Highly variable extraneurologic manifestations that occur in less than 50% of patients \- De novo mutation MOLECULAR BASIS \- Caused by mutation in the RE repeats-encoding gene (RERE, 605226.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
|
c1842870
| 27,108 |
omim
|
https://www.omim.org/entry/616975
| 2019-09-22T15:47:16 |
{"mesh": ["C535362"], "omim": ["616975"], "orphanet": ["494344", "1606"], "synonyms": [], "genereviews": ["NBK538938"]}
|
Adenosquamous lung carcinoma
SpecialtyOncology/pulmonology
Adenosquamous lung carcinoma (AdSqLC) is a biphasic malignant tumor arising from lung tissue that is composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells.[1]
## Contents
* 1 Classification
* 2 References
* 3 External links
## Classification[edit]
Lung cancers have been historically classified using two major paradigms. Histological classification systems group lung cancers according to the appearance of the cells and surrounding tissues when they are viewed under a microscope. Clinical classification systems divide lung cancers into groups based on medical criteria, particularly their response to different treatment regimens.
Before the mid-1900s, lung cancer was considered to be a single disease entity, with all forms treated similarly. In the 1960s, small cell lung carcinoma (SCLC) was recognized as a unique form of lung cancer, based both on its appearance (histology) and its clinical properties, including much greater susceptibility to chemotherapy and radiation, more rapid growth rate, and its propensity to metastasize widely early on in its course. Since then, most oncologists have based patient treatment decisions on a dichotomous division of lung cancers into SCLC and non-small cell lung carcinomas (NSCLC), with the former being treated primarily with chemoradiation, and the latter with surgery.
An explosion of new knowledge, accumulated mainly over the last 20 years, has proved that lung cancers should be considered an extremely heterogeneous family of neoplasms[2] with widely varying genetic, biological, and clinical characteristics, particularly their responsiveness to the large number of newer treatment protocols. Well over 50 different histological variants are now recognized under the 2004 revision of the World Health Organization ("WHO-2004") typing system, currently the most widely used lung cancer classification scheme.[1] Recent studies have shown beyond doubt that the old clinical classification paradigm of "SCLC vs. NSCLC" is now obsolete, and that correct "subclassification" of lung cancer cases is necessary to assure that lung cancer patients receive optimum management.[3][4]
Approximately 98% of lung cancers are carcinoma, which are tumors composed of cells with epithelial characteristics.[5] LCLC's are one of 8 major groups of lung carcinomas recognized in WHO-2004:[1]
* Squamous cell carcinoma
* Small cell carcinoma
* Adenocarcinoma
* Large cell carcinoma
* Adenosquamous carcinoma
* Sarcomatoid carcinoma
* Carcinoid tumor
* Salivary gland-like carcinoma
## References[edit]
1. ^ a b c Travis, William D; Brambilla, Elisabeth; Muller-Hermelink, H Konrad; Harris, Curtis C, eds. (2004). Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart (PDF). World Health Organization Classification of Tumours. Lyon: IARC Press. ISBN 978-92-832-2418-1. Archived from the original (PDF) on 23 August 2009. Retrieved 27 March 2010.
2. ^ Roggli VL, Vollmer RT, Greenberg SD, McGavran MH, Spjut HJ, Yesner R (June 1985). "Lung cancer heterogeneity: a blinded and randomized study of 100 consecutive cases". Hum. Pathol. 16 (6): 569–79. doi:10.1016/S0046-8177(85)80106-4. PMID 2987102.
3. ^ Rossi G, Marchioni A, Sartori G, Longo L, Piccinini S, Cavazza A (2007). "Histotype in non-small cell lung cancer therapy and staging: The emerging role of an old and underrated factor". Curr Resp Med Rev. 3: 69–77. doi:10.2174/157339807779941820.
4. ^ Vincent MD (August 2009). "Optimizing the management of advanced non-small-cell lung cancer: a personal view". Curr Oncol. 16 (4): 9–21. doi:10.3747/co.v16i4.465. PMC 2722061. PMID 19672420.
5. ^ Travis WD, Travis LB, Devesa SS (January 1995). "Lung cancer". Cancer. 75 (1 Suppl): 191–202. doi:10.1002/1097-0142(19950101)75:1+<191::AID-CNCR2820751307>3.0.CO;2-Y. PMID 8000996.
## External links[edit]
* "Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart". World Health Organization Classification of Tumours. Archived from the original on 15 November 2015. Retrieved 6 March 2011. (Download Page).
* "Lung cancer page". National Cancer Institute. 1 January 1980.
* v
* t
* e
Cancer involving the respiratory tract
Upper RT
Nasal cavity
Esthesioneuroblastoma
Nasopharynx
Nasopharyngeal carcinoma
Nasopharyngeal angiofibroma
Larynx
Laryngeal cancer
Laryngeal papillomatosis
Lower RT
Trachea
* Tracheal tumor
Lung
Non-small-cell lung carcinoma
* Squamous-cell carcinoma
* Adenocarcinoma (Mucinous cystadenocarcinoma)
* Large-cell lung carcinoma
* Rhabdoid carcinoma
* Sarcomatoid carcinoma
* Carcinoid
* Salivary gland–like carcinoma
* Adenosquamous carcinoma
* Papillary adenocarcinoma
* Giant-cell carcinoma
Small-cell carcinoma
* Combined small-cell carcinoma
Non-carcinoma
* Sarcoma
* Lymphoma
* Immature teratoma
* Melanoma
By location
* Pancoast tumor
* Solitary pulmonary nodule
* Central lung
* Peripheral lung
* Bronchial leiomyoma
Pleura
* Mesothelioma
* Malignant solitary fibrous tumor
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Adenosquamous lung carcinoma
|
c0279557
| 27,109 |
wikipedia
|
https://en.wikipedia.org/wiki/Adenosquamous_lung_carcinoma
| 2021-01-18T18:51:38 |
{"umls": ["C0279557"], "wikidata": ["Q19000410"]}
|
Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.
Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. Another feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of the fingers or toes, or hypoplasia or absence of the nails. These abnormalities are most common on the fifth fingers or toes. In addition, most affected individuals have facial features described as coarse. These typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. There is a range of facial features seen in people with Coffin-Siris syndrome, and not all affected individuals have the typical features. In addition, people with this condition may have an abnormally small head (microcephaly).
Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present.
## Frequency
Coffin-Siris syndrome is a rare condition that is diagnosed in females more frequently than in males. Approximately 140 cases have been reported in the medical literature.
## Causes
Coffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Each of these genes provides instructions for making one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed.
Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells.
Although it is unclear what effect mutations in these genes have on SWI/SNF complexes, researchers suggest that the mutations result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts several cellular processes, which could explain the diverse signs and symptoms of Coffin-Siris syndrome.
### Learn more about the genes associated with Coffin-Siris syndrome
* ARID1A
* ARID1B
* SMARCA4
* SMARCB1
* SMARCE1
## Inheritance Pattern
Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, the condition is not usually inherited from an affected parent, but occurs from new (de novo) mutations in the gene that likely occur during early embryonic development.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Coffin-Siris syndrome
|
c0265338
| 27,110 |
medlineplus
|
https://medlineplus.gov/genetics/condition/coffin-siris-syndrome/
| 2021-01-27T08:24:51 |
{"gard": ["6124"], "mesh": ["C536436"], "omim": ["135900"], "synonyms": []}
|
Abnormal shortness of the forearms and lower legs
Mesomelia
Mesomelia refers to conditions in which the middle parts of limbs are disproportionately short.[1] When applied to skeletal dysplasias, mesomelic dwarfism describes generalised shortening of the forearms and lower legs. This is in contrast to rhizomelic dwarfism in which the upper portions of limbs are short such as in achondroplasia.
Forms of mesomelic dwarfism currently described include:[2]
* Langer mesomelic dysplasia
* Ellis–van Creveld syndrome
* Robinow syndrome
* Léri–Weill dyschondrosteosis[3]
## References[edit]
1. ^ "mesomelia". The American Heritage® Medical Dictionary. Retrieved 8 February 2015.
2. ^ Weerakkody, Yuranga. "Mesomelia". Radiopaedia.org. Retrieved 8 February 2015.
3. ^ "Léri–Weill dyschondrosteosis". Whonamedit?. Retrieved 8 February 2015.
* v
* t
* e
Osteochondrodysplasia
Osteodysplasia//
osteodystrophy
Diaphysis
* Camurati–Engelmann disease
Metaphysis
* Metaphyseal dysplasia
* Jansen's metaphyseal chondrodysplasia
* Schmid metaphyseal chondrodysplasia
Epiphysis
* Spondyloepiphyseal dysplasia congenita
* Multiple epiphyseal dysplasia
* Otospondylomegaepiphyseal dysplasia
Osteosclerosis
* Raine syndrome
* Osteopoikilosis
* Osteopetrosis
Other/ungrouped
* FLNB
* Boomerang dysplasia
* Opsismodysplasia
* Polyostotic fibrous dysplasia
* McCune–Albright syndrome
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
Osteochondroma
* osteochondromatosis
* Hereditary multiple exostoses
Chondroma/enchondroma
* enchondromatosis
* Ollier disease
* Maffucci syndrome
Growth factor receptor
FGFR2:
* Antley–Bixler syndrome
FGFR3:
* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia
COL2A1 collagen disease
* Achondrogenesis
* type 2
* Hypochondrogenesis
SLC26A2 sulfation defect
* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia
Chondrodysplasia punctata
* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome
Other dwarfism
* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis
This article about a congenital malformation is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Mesomelia
|
c0549306
| 27,111 |
wikipedia
|
https://en.wikipedia.org/wiki/Mesomelia
| 2021-01-18T18:49:41 |
{"gard": ["3549"], "wikidata": ["Q19597858"]}
|
A number sign (#) is used with this entry because of evidence that susceptibility to age-related macular degeneration-4 (ARMD4) is conferred by variation in the CFH (134370) on chromosome 1q31.
For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see ARMD1 (603075).
Molecular Genetics
Klein et al. (2005) performed a genomewide scan of 96 cases and 50 controls for polymorphisms associated with ARMD. They identified a risk allele (rs380390) with a p value of less than 10(-7) that increased the likelihood of ARMD by a factor of 7.4 in homozygous individuals (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyr402-to-his substitution of complement factor H (Y402H; 134370.0008). This polymorphism is in a region of CFH that binds heparin and C-reactive protein (see 123260).
Haines et al. (2005) independently identified the CFH Y402H polymorphism in 2 independent data sets. They found that the Y402H variant significantly increased the risk for ARMD with odds ratios between 2.45 and 5.57. Haines et al. (2005) suggested that this common variant likely explains about 43% of ARMD. Edwards et al. (2005) focused on the 1q25-q31 region, the ARMD1 locus, using 2 independent case-control populations. They found significant association (p = 4.95 x 10(-10)) with the CFH Y402H polymorphism. In their study, possession of at least 1 histidine at amino acid position 402 increased the risk of ARMD 2.7-fold, which they suggested may account for 50% of the attributable risk of ARMD.
Hageman et al. (2005) found a significant association between 2 variants in the CFH gene, Y402H and I62V (134370.0009), and ARMD in 2 independent cohorts comprising over 900 cases of ARMD and 400 matched controls. One haplotype containing Y402H conferred an odds ratio of 2.46 and 3.51, when present in the heterozygous or homozygous state, respectively. Several protective haplotypes were also identified. Hageman et al. (2005) found that CFH and its ligand C3b/iC3b colocalized in amyloid-containing substructural elements within macular drusen from patients with age-related macular degeneration. Real-time quantitative PCR assays showed that CFH gene products were generated from human retinal epithelial cells from individuals with and without macular degeneration. The findings suggested that variations within the CFH gene may attenuate complement inhibitory function and put retinal pigmented epithelial and choroidal cells at risk for alternative pathway-mediated complement attack.
Conley et al. (2005) investigated 15 candidate genes for ARMD by performing family and case-control genetic association studies. The Y402H variant in exon 9 of the CFH gene was significantly associated with ARMD in the case-control allele (P less than 0.0001), case-control genotype (P less than 0.0001), and case-control family (P less than 0.0001) tests. They proposed a potential role for multiple pathways in the etiology of ARMD, including pathways involved with fatty acid biosynthesis and the complement system.
Gotoh et al. (2006) found no association between the Y402H polymorphism and exudative ARMD among 146 Japanese patients and 105 Japanese controls. There was also no association between ARMD and several CFH haplotypes.
Li et al. (2006) examined 84 polymorphisms in and around CFH in 726 affected individuals (including 544 unrelated individuals) and 268 unrelated controls. In this sample, 20 of these polymorphisms showed stronger association with disease susceptibility than did the Y402H variant (134370.0008). Further, no single polymorphism could account for the contribution of the CFH locus to disease susceptibility. Instead, multiple polymorphisms defined a set of 4 common haplotypes (of which 2 were associated with disease susceptibility and 2 seemed to be protective) and multiple rare haplotypes (associated with increased susceptibility in aggregate). The results suggested that there are multiple disease susceptibility alleles in the region and that noncoding CFH variants play a role in disease susceptibility.
In a case-control study drawn from a U.S.-based population of European descent, Maller et al. (2006) identified a previously unrecognized common, noncoding variant in CFH (rs1410996; 134370.0016) that substantially increases the influence of this locus on ARMD. Li et al. (2006) also identified this variant in their study as the SNP showing the second strongest association with ARMD. In addition, Maller et al. (2006) strongly replicated the associations of common alleles in the C2 (613927) and CFB (138470) genes.
Using a population-based study among Latinos, Tedeschi-Blok et al. (2007) found that the CFH Y402H polymorphism was not a major risk factor for overall early ARMD, but may play a role in susceptibility to bilateral early ARMD.
Scott et al. (2007) examined the potential gene-environment interaction between cigarette smoking and the CFH Y402H polymorphism, 2 strong risk factors for ARMD. Effects of both Y402H genotype and cigarette smoking were stronger when comparing neovascular (grade 5) ARMD with grade 1 controls than when comparing all cases (grades 3-5) with grades 1-2 controls. Scott et al. (2007) concluded that cigarette smoking and Y402H are independent risk factors for ARMD and that both risk factors are associated more strongly with neovascular (wet) ARMD than with all other forms of ARMD combined.
Grassi et al. (2007) found a higher association of the Y402H polymorphism with the cuticular drusen phenotype of ARMD than with more typical ARMD cases.
In a case-control study with subjects originally recruited through the Cardiovascular Health Study (CHS) and the Age-Related Eye Disease Study (AREDS), Conley et al. (2006) found that CFH was significantly associated with ARMD in both cohorts (p less than 0.00001). A metaanalysis confirmed that the risk allele (Y402H) in the heterozygous or homozygous state (odds ratio = 2.4 and 6.2, respectively) conferred susceptibility. The LOC387715 gene (ARMS2; 611313) was also significantly associated with ARMD in both cohorts (p less than 0.00001) and a metaanalysis confirmed that the risk allele (A69S; 611313.0001) in the heterozygous and homozygous state (odds ratio = 2.5 and 7.3, respectively) conferred susceptibility. Both CFH and LOC387715 showed an allele dosage effect on the ARMD risk: individuals homozygous at either locus were at more than 2-fold risk compared to those heterozygous. Joint action of CFH and LOC387715 was best described by independent multiplicative effect without significant interaction in both cohorts. Interaction of both genes with cigarette smoking was insignificant in both cohorts.
Thompson et al. (2007) investigated the role of pigmentary abnormalities (PA) and geographic atrophy (GA) in ARMD. A previous genomewide scan was reanalyzed using the rate of change along the PA/GA scale. Evidence was found for linkage to 1q25, 5p13, 6q21-23, and 11q14 (p less than 0.01). The most significant peak was found on chromosome 1, near CFH (p = 6.20 x 10(-4)). Association analysis of CFH polymorphisms suggested that CFH might play a role in the development of pigmentary abnormalities and might modify the progression along the PA/GA scale.
Fritsche et al. (2013) identified association of the A allele of rs10737680 with increased risk of ARMD (OR 2.43; 95% CI 2.39-2.47; combined p = 1 x 10(-434)).
In an Amish ARMD family in which 3 affected sibs did not carry the common risk variants Y402H in CFH or A69S in ARMS2 Hoffman et al. (2014) performed exome sequencing and identified a missense mutation in the CFH gene, P503A (134370.0023), in the 3 affected sibs. The oldest sib was diagnosed with bilateral choroidal neovascularization at 75 years of age, whereas the other 2 affected sibs were diagnosed with large drusen in both eyes at ages 72 and 68 years, respectively. A sib who was initially considered to be unaffected at age 66 years but who was later diagnosed with ARMD at age 74 did not carry the P503A variant; however, he did carry the known Y402H risk variant. One of 2 remaining unaffected sibs, who carried both the P503A and A69S risk variants, presented with small drusen upon examination at age 72 years. Case-control analysis using self-reported affection status in an Amish sample population showed significant association of ARMD with P503A (p = 9.27 x 10(-13)). This sample consisted of 1,150 individuals connected into a single 13-generation pedigree, including 128 individuals with ARMD, 728 without ARMD, and 294 with no information. Results were consistent in the subanalysis of individuals with clinically confirmed ARMD (p = 5.21 x 10(-7)). Carriers of the variant could be traced back 4 generations to a shared common ancestor, suggesting a recent founder event. The P503A variant was not found in a non-Amish Caucasian dataset consisting of 1,456 cases and 791 controls.
### Interaction of CFH with Mutation in Other Genes
In a cohort of 460 advanced ARMD cases and 269 age-matched controls and 57 archived ARMD cases and 18 age-matched non-ARMD controls, Tuo et al. (2006) found that a -6530C-G SNP in the ERCC6 gene (609413.0010) was associated with ARMD susceptibility, both independently and through interaction with an intronic G-C SNP in the CFH gene (134370.0008) previously reported by Klein et al. (2005). A disease odds ratio of 23 was conferred by homozygosity for risk alleles at both ERCC6 and CFH (G allele and C allele, respectively) compared to homozygosity for nonrisk alleles. Tuo et al. (2006) suggested that the strong ARMD predisposition conferred by the ERCC6 and CFH SNPs may result from biologic epistasis.
Hughes et al. (2006) found that a haplotype carrying deletion of the CFHR1 (134371) and CFHR3 (605336) genes was associated with decreased risk of ARMD, being present on 20% of chromosomes of controls and 8% of chromosomes of individuals with ARMD. The proteins encoded by these genes were absent in serum of homozygotes. The protective effect of the deletion haplotype could not be attributed to linkage disequilibrium with Y402H (134370.0008) and was replicated in an independent sample. The authors noted that the products of both the CFHR1 and CFHR3 genes are normally present in the circulation, where they have the potential to compete with CFH for C3 (120700) binding, and hypothesized that CFH produced from full-length transcript is beneficial and that other CFH-related proteins interfere with regulation of complement activity.
Schaumberg et al. (2007) studied the associations between the CFH Y402H and the LOC387715 A69S (611313.0008) variants with ARMD in a prospective, nested case-control study and investigated whether these variants interacted with modifiable risk factors. Participants with 1 or 2 copies of the Y402H variant were, respectively, 1.98 and 3.92 times more likely to develop ARMD, whereas the incidence rate ratios for 1 or 2 copies of A69S were 2.38 and 5.66, respectively. The fraction of ARMD cases attributable to these 2 variants was 63%. Subjects homozygous for both risk alleles had a 50-fold increased risk of ARMD, and cigarette smoking and obesity multiplied the risks associated with these variants.
Meyers et al. (2015) investigated whether the CFH Y402H allele or the ARMS2 A69S allele modified the risk for AMD in women with unhealthy lifestyles. They studied 1,663 women, aged 50 to 79 years, from the Carotenoids in Age-Related Eye Disease Study. Healthy lifestyle scores were assigned based on Healthy Eating Index scores, physical activity (metabolic equivalent of task hours/week), and smoking pack years. Odds of ARMD were 3.3 times greater in women with both low healthy lifestyle score (0-2/6) and high-risk CFH genotype (CC), relative to those with low genetic risk (TT) and high healthy lifestyle scores (4-6/6). There were no significant additive or multiplicative interactions for ARMS2 and lifestyle score. Meyers et al. (2015) concluded that having unhealthy lifestyles and 2 CFH risk alleles increased ARMD risk (primarily in the early stages), in an additive or greater (synergistic) manner. However, unhealthy lifestyles increased ARMD risk regardless of ARMD risk genotype.
In 711 individuals with ARMD and 1,041 controls, Raychaudhuri et al. (2010) reproduced associations at the CFH Y402H allele, using rs10801555 as a proxy, and CFH rs1410996, using rs10737680 as a proxy, but observed modest evidence for association with the CFHR1/CFHR3 deletion (p = 7.0 x 10(-21)). Logistic regression conditioned on rs10737680 resulted in substantially mitigated statistical strength for the protective effect of the CFHR1/CFHR3 deletion, suggesting that the CFHR1/CFHR3 deletion and rs10737680 were not entirely independent. Haplotype analysis demonstrated that both markers tagged a collection of low-risk haplotypes, but neither tagged all of them perfectly, suggesting that there could be 1 or more not-yet-identified variants that better explain disease risk. Raychaudhuri et al. (2010) favored the parsimonious explanations of a single functional allele in high correlation with rs10737680 acting on all protective haplotypes or of a risk variant acting on the intermediate risk haplotypes. In response, Hughes et al. (2010) noted that the finding of a lower statistical significance for the CFHR1/CFHR3 deletion than for rs10801555 or rs10737680 was a reflection of allele frequencies rather than effect size. The authors suggested that parsimonious explanations with the fewest functional elements are unnecessarily restrictive and noted that functional studies support a minimum of 3 factors.
To identify rare penetrant variants in the CFH locus, Raychaudhuri et al. (2011) phased genotypes for 20 common SNPs spanning the CFH-CFHR1-CFHR3 region and a common CFHR1-CFHR3 deletion in 711 individuals with advanced ARMD and 1,041 controls. They identified a rare high-risk haplotype ('H5') that lacked both the Y402H and rs10737680-rs1410996 risk alleles, but contained the R1210C substitution (134370.0017). Genotyping R1210C in 2,423 ARMD cases and 1,122 controls demonstrated high penetrance (present in 40 cases vs 1 control; p = 7.0 x 10(-6)) and an association with a 6-year-earlier onset of disease (p = 2.3 x 10(-6)). Because R1210C is known to cause familial renal disease (atypical hemolytic uremic syndrome; 235400), Raychaudhuri et al. (2011) assessed renal function in 17 unrelated R1210C heterozygotes with advanced ARMD but found no evidence of clinically significant renal dysfunction, although subclinical renal dysfunction was present (median calculated GFR of 62 mL/min). As ARMD patients in general have subclinical renal dysfunction, the authors compared renal function in the R1210C heterozygotes to that of 17 ARMD patients without R1210C who were matched for disease severity, age, and gender, but found no significant difference.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
MACULAR DEGENERATION, AGE-RELATED, 4
|
c1853147
| 27,112 |
omim
|
https://www.omim.org/entry/610698
| 2019-09-22T16:04:13 |
{"mesh": ["C565196"], "omim": ["610698"]}
|
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
MME-related autosomal dominant Charcot Marie Tooth disease type 2
|
c4015635
| 27,113 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=497757
| 2021-01-23T17:14:34 |
{"omim": ["617017"], "synonyms": ["MME-related autosomal dominant CMT2", "MME-related autosomal dominant hereditary motor and sensory neuropathy type 2"]}
|
## Mapping
Soro et al. (2002) performed a genomewide scan for genes that predispose to low serum HDL cholesterol (see 604091) in 25 well-defined Finnish families that had been ascertained for familial low HDL cholesterol and premature coronary heart disease. They found evidence for linkage between the low HDL cholesterol trait and 3 loci, in a pooled data analysis of families with low HDL cholesterol and familial combined hyperlipidemia (FCHL; 144250). The strongest statistical evidence was obtained at a locus on 8q23, with a 2-point lod score of 4.7 under a recessive mode of inheritance and a multipoint lod score of 3.3. Evidence for linkage also emerged for loci on 16q24.1-q24.2 and 20q13.11, the latter representing a region to which type II diabetes (125853) has been mapped (NIDDM3; 603694). Low HDL cholesterol is a common feature in type II diabetes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
|
c1846886
| 27,114 |
omim
|
https://www.omim.org/entry/607053
| 2019-09-22T16:09:45 |
{"omim": ["607053"]}
|
## Summary
### Clinical characteristics.
SATB2-associated syndrome (SAS) is a multisystem disorder characterized by significant neurodevelopmental compromise with limited to absent speech, behavioral issues, and craniofacial anomalies. All individuals described to date have manifest developmental delay / intellectual disability, with severe speech delay. Affected individuals often have hypotonia and feeding difficulties in infancy. Behavioral issues may include autistic features, hyperactivity, and aggressiveness. Craniofacial anomalies may include palatal abnormalities (cleft palate, high-arched palate, and bifid uvula), micrognathia, and abnormal shape or size of the upper central incisors. Less common features include skeletal anomalies (osteopenia, pectus deformities, kyphosis/lordosis, and scoliosis), growth restriction, strabismus/refractive errors, congenital heart defects, genitourinary anomalies, and epilepsy. While dysmorphic features have been described in individuals with this condition, these features are not typically distinctive enough to allow for a clinical diagnosis of SAS.
### Diagnosis/testing.
The diagnosis of SATB2-associated syndrome (SAS) is established in a proband by detection of one of the following:
* A heterozygous intragenic SATB2 pathogenic variant (61%)
* A heterozygous deletion at chromosome 2q33.1 that includes SATB2 (22%)
* An intragenic deletion or duplication of SATB2 (9%)
* A chromosome translocation with a chromosome 2q33.1 breakpoint that disrupts SATB2 (8%)
### Management.
Treatment of manifestations: Treatment is symptomatic. Nutritional support for feeding difficulties and management by a cleft/craniofacial team for those with palatal anomalies early in life. Early referral for developmental support/special education; standard treatment for dental anomalies, sleep disturbance, skeletal anomalies, seizure disorders, genitourinary anomalies, strabismus and refractive errors, and congenital heart defects.
Surveillance: Evaluation of nutritional status, growth, and developmental progress at each visit; routine monitoring by a neurologist for those with epilepsy; annual sleep study in those with a history of sleep disturbance; evaluation for scoliosis/spine deformity at each visit and consideration of screening for osteopenia; routine evaluations by dentistry and ophthalmology.
### Genetic counseling.
SATB2-associated syndrome (SAS) is an autosomal dominant disorder. Almost all probands with SAS reported to date have the disorder as the result of a de novo genetic event. In two families, parental mosaicism seemed likely (given recurrence of SAS in sibs and failure to detect the genetic alteration in parental blood samples).To date, individuals with SAS are not known to reproduce. Once an SATB2 intragenic pathogenic variant, a 2q33.1 deletion that includes SATB2, or a chromosome translocation affecting SATB2 has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.
## Diagnosis
No formal clinical diagnostic criteria have been established for SATB2-associated syndrome.
### Suggestive Findings
SATB2-associated syndrome (SAS) should be suspected in individuals with the following major features [Zarate & Fish 2017]:
* Significant neurodevelopmental disorders in all affected individuals
* Infantile hypotonia and feeding difficulties (relatively common)
* Subsequent developmental delay and severe speech delay (including, in some, absence of speech)
* Behavioral issues: autistic tendencies, hyperactivity, and aggressiveness
* Palatal anomalies: cleft palate, bifid uvula, and high-arched palate
* Dental anomalies: prominent upper incisors and other anomalies
Some of the common features can be described using the acronym SATB2: severe speech anomalies; abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
### Establishing the Diagnosis
The diagnosis of SATB2-associated syndrome (SAS) is established in a proband by detection of one of the following: a heterozygous intragenic SATB2 pathogenic variant, a heterozygous non-recurrent deletion at 2q33.1 that includes SATB2, an intragenic deletion or duplication of SATB2 detectable by chromosomal microarray analysis (CMA), or a chromosome translocation with a 2q33.1 breakpoint that disrupts SATB2 (see Table 1).
Molecular genetic testing approaches can include a combination of CMA, a multigene panel, comprehensive genomic sequencing, and exome array.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotypes of many inherited disorders with developmental delay / intellectual disability overlap, many children with SAS are diagnosed by the following recommended genomic testing.
Note: Because the phenotype of SAS is indistinguishable from a wide range of other developmental disorders, most affected individuals with a 2q33.1 deletion are likely to be diagnosed using CMA and individuals with a pathogenic variant detectable by sequence analysis are likely detected by comprehensive genomic sequencing.
#### Recommended First-Tier Genomic Testing
Chromosomal microarray analysis (CMA) using oligonucleotide or SNP arrays is recommended first because deletions/duplications are identified in about 25% of probands (see Table 1). The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 2q33.1 region.
#### Options for Second-Tier Genomic Testing
If a chromosome 2q33.1 deletion is not identified on CMA, testing options include the following:
* A multigene panel that includes SATB2 and other genes of interest (see Differential Diagnosis) is recommended because pathogenic sequence variants are identified in 61% of probands (see Table 1). Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see Table 1).
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* Comprehensive genomic testing (when clinically available and not previously performed) including exome sequencing and genome sequencing may be considered.
Exome array (when clinically available) may be considered if exome sequencing is not diagnostic.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
#### Further Testing to Consider
If a 2q33.1 deletion is not identified on CMA and an intragenic pathogenic variant has not been identified on either a multigene panel or comprehensive genomic testing (genomic sequencing and exome array), additional options for testing include:
* Karyotype. A chromosome translocation with a 2q33.1 breakpoint that disrupts SATB2 has been observed in 8% of person with SAS (Table 1).
Note: Single-gene testing (sequence analysis of SATB2, followed by gene-targeted deletion/duplication analysis) is rarely useful and typically NOT recommended.
### Table 1.
Molecular Genetic Testing Used in SATB2-Associated Syndrome
View in own window
Gene 1MethodProportion of Probands with a Genetic Alteration 2 Detectable by Method
SATB2Sequence analysis 346/76 (61%) 4
Gene-targeted deletion/duplication analysis 5,6See footnote 7.
CMA 824/76 (31%) 9
Karyotype (to detect structural variants)6/76 (8%) 10
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Almost all individuals with pathogenic missense, nonsense, and frameshift variants have been diagnosed by exome sequencing.
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes may not be detected by these methods.
7\.
Note that, although gene-targeted deletion/duplication assays may detect smaller events than genomic deletion/duplication assays, they will detect larger events but may not be able to determine the size. All intragenic deletions and duplications, as well as 2q33.1 deletions, were detected by CMA and would have been detected by a gene-targeted deletion/duplication assay. It is possible that additional smaller deletions and duplications could be detected by these methods.
8\.
Chromosomal microarray analysis (CMA) using oligonucleotide arrays or SNP arrays. CMA designs in current clinical use target the 2q33.1 region.
9\.
In addition to detecting the 22q33.1 deletion, CMA technology identified an intragenic duplication in three individuals and an intragenic deletion in four [Rosenfeld et al 2009, Balasubramanian et al 2011, Asadollahi et al 2014, Liedén et al 2014, Kaiser et al 2015].
10\.
Six individuals with an SATB2 disruption resulting from a "balanced translocation" have been described [Brewer et al 1999, FitzPatrick et al 2003, Baptista et al 2008, Tegay et al 2009, Talkowski et al 2012, Rainger et al 2014].
## Clinical Characteristics
### Clinical Description
SATB2-associated syndrome (SAS) is a multisystem disorder characterized by significant neurodevelopmental compromise with limited or absent speech, behavioral issues, and craniofacial anomalies.
The following clinical findings, based on published reports of 76 individuals with a molecularly confirmed diagnosis of SAS (47 male, 27 female, 2 where sex was not reported), are summarized in Table 2 [Van Buggenhout et al 2005, Leoyklang et al 2007, de Ravel et al 2009, Rosenfeld et al 2009, Urquhart et al 2009, Rifai et al 2010, Balasubramanian et al 2011, Rauch et al 2012, Mc Cormack et al 2013, Tomaszewska et al 2013, Döcker et al 2014, Gilissen et al 2014, Liedén et al 2014, Trakadis et al 2014, Kaiser et al 2015, Yu et al 2015, Zarate et al 2015, Boone et al 2016, Gregoric Kumperscak et al 2016, Lee et al 2016, Bengani et al 2017, Schwartz et al 2017, Zarate et al 2017].
### Table 2.
Summary of the Most Common Clinical Findings in 76 Individuals with SATB2-Associated Syndrome
View in own window
Finding% of Affected Individuals 1
Developmental delay / intellectual disability100%
Speech delay95%
Craniofacial dysmorphism89%
Dental anomalies72%
Behavioral issues55%
Cleft palate50%
Abnormal brain MRI49%
Micrognathia42%
Hypotonia42%
Feeding difficulties39%
Growth restriction34%
Skeletal anomalies32%
1\.
Complete information was not available on some individuals.
Developmental delay / intellectual disability. While all known individuals with SAS have some degree of intellectual disability, more than half experience severe developmental delay / intellectual disability with absent speech [Zarate & Fish 2017]. For those with a heterozygous pathogenic variant within SATB2 (those who do not have a larger deletion of 2q33.1 that includes SATB2 and other genes), mean age at walking is 20.9 months (range 11-35) and at first word is 19.8 months (range 13-42), although some never achieve verbal communication [Zarate et al 2017].
Developmental regression and/or cognitive decline has been described only once in an adult female with an 8.6-Mb deletion of 2q32.2-q33.1 who progressed from mild to severe intellectual disability and from poor to absent speech between ages six and 12 years [Gregoric Kumperscak et al 2016].
Mild but nonspecific facial dysmorphism. In most reports of affected individuals, at least minor facial dysmorphic features have been reported. For those with pathogenic variants within SATB2, thin vermilion of the upper lip (20%) and long and smooth philtrum (17%) are the most consistent features (Figure 1 A-E) [Zarate & Fish 2017, Zarate et al 2017]. In those with larger 2q33.1 deletions, the most consistent features include prominent forehead or high anterior hairline (53%), thin vermilion of the upper lip (35%), low-set ears (29%), and/or long face (24%) (Figure 1 F-G) [Zarate & Fish 2017].
#### Figure 1.
Facial features of individuals with SATB2-associated syndrome caused by intragenic pathogenic variants in SATB2 (A-D), intragenic deletion of SATB2 (E), and large deletions that include SATB2 and other adjacent genes (F-G). Most consistently reported (more...)
Dental anomalies. While abnormal shape or size or the upper central incisors is the most common finding (36%), other dental issues can include crowding (36%), hypodontia (16%), delayed primary dentition (6%), and/or diastema (4%). Other issues reported by families include sialorrhea, malocclusion, and fused incisors [Zarate et al 2017].
Behavioral anomalies. A broad spectrum of behavioral findings described can include jovial or friendly personality, autistic tendencies, agitation or aggressive outbursts, hyperactivity, difficulties falling asleep or maintaining sleep, and sensory issues [Bengani et al 2017, Zarate et al 2017]. Two affected females were described to have Rett syndrome-like phenotypes with limited purposeful hand movements, stereotyped repetitive movements, and bruxism [Lee et al 2016]. Additional behavioral issues include high pain tolerance, obsessive tendencies, skin picking, and anxiety [Zarate et al 2017].
Skeletal anomalies. Pectus deformities, kyphosis/lordosis, and scoliosis have been described in several affected individuals. To date tibial and/or femoral bowing has been described in a few individuals, some with concurrent osteopenia [Zarate et al 2018]. Arachnodactyly, broad thumbs, clinodactyly, small hands/feet, and finger contractures have been infrequently reported.
While routine screening for osteopenia has not been conducted systematically, low bone mineral density or radiographic evidence of osteopenia has been documented to date in several affected individuals as early as age two years [Leoyklang et al 2007, Tegay et al 2009, Talkowski et al 2012, Liedén et al 2014, Rainger et al 2014, Zarate et al 2015, Boone et al 2016, Lee et al 2016, Zarate et al 2018]. Elevated alkaline phosphatase levels have been seen in some individuals with documented osteopenia [Boone et al 2016, Zarate et al 2018].
Craniofacial anomalies. Palatal abnormalities documented in 76% of individuals include cleft palate (50%), high-arched palate (23%), and bifid uvula (3%). Micrognathia, diagnosed in 42%, has not required surgical correction. The combination of craniofacial issues and hypotonia is the most likely explanation for the high frequency of feeding issues present during infancy and beyond.
Neuroimaging. Brain abnormalities, documented in half of affected individuals who underwent head MRI, include nonspecific findings such as enlarged ventricles (12%), agenesis of the corpus callosum (5%), and prominent perivascular spaces (5%). Of interest, abnormal myelination for age and/or non-progressive white matter abnormalities appear to be particularly common (26%) in those with pathogenic nonsense, frameshift, and missense variants [Zarate & Fish 2017, Zarate et al 2017]. Note that these findings are not sufficiently distinct to specifically suggest the diagnosis of SAS.
Other neurologic manifestations
* Hypotonia, particularly during infancy (42%)
* Clinical seizures (14%)
* EEG abnormalities without clinically recognizable seizures [Zarate et al 2017]
* Less common neurologic issues include gait abnormalities/ataxia (17%), hypertonicity and/or spasticity (4%), and hyperreflexia (3%).
Growth restriction. Pre- and postnatal growth restriction, sometimes with associated microcephaly, can be found in individuals with SAS, particularly in those with large deletions involving SATB2 and adjacent genes (71%).
Eye findings. Both strabismus (18%) and refractive errors (8%) have been described.
Cardiovascular. Septal defects have been reported in two affected individuals with large deletions involving SATB2 and adjacent genes. In one person, echocardiographic evaluation also revealed severe right ventricular volume overload and persistent pulmonary hypertension [Van Buggenhout et al 2005, Mc Cormack et al 2013].
Genitourinary. Small or undescended testicles, inguinal hernias, and hypospadias have been described in males with large deletions involving SATB2 and adjacent genes.
Ectodermal changes. Thin skin, reduced subcutaneous fat, and thin or sparse hair have been described in some affected individuals with large deletions involving SATB2 and adjacent genes.
### Genotype-Phenotype Correlations
No genotype-phenotype correlations for SATB2 pathogenic variants have been formally established to date; however, it has been suggested that genitourinary anomalies, cardiac defects, and ectodermal changes (other than dental) are more common (or exclusively present) in affected individuals with large deletions involving SATB2 and adjacent genes [Zarate & Fish 2017].
The number of reported individuals with SAS is still relatively small; genotype-phenotype correlations may emerge as more affected individuals are identified.
### Nomenclature
The name Glass syndrome was suggested after a report of a male with a cytogenetically visible 2q32.2-q33.1 deletion that included SATB2 was published [Glass et al 1989]. SATB2 was subsequently identified as the gene associated with this syndrome [FitzPatrick et al 2003]. The designation of SATB2-associated syndrome (SAS) was recently proposed as a new clinically recognizable syndrome [Döcker et al 2014].
For SATB2 alterations, however, the existence of multiple designations for a fairly consistent phenotype ‒ regardless of the underlying pathomechanism ‒ has created some confusion particularly for families of affected individuals [Author, personal experience] such that separate social media support groups exist, one for individuals with deletions of SATB2 and another for individuals with pathogenic intragenic SATB2 variants. In this review, the authors have documented a consistent phenotype independent of the underlying SATB2 genetic alteration. When described, phenotypic differences appear to relate (with few exceptions) to differences in severity rather than in the system affected. Therefore, in an attempt to unify the nomenclature and reduce confusion, the authors support use of the term SATB2-associated syndrome.
### Prevalence
The prevalence of SAS is not known. However, two recent studies have estimated the frequency of SAS in large cohorts of individuals with undiagnosed intellectual disability / developmental delay at 0.24%-0.3% [Bengani et al 2017, Zarate et al 2018].
## Differential Diagnosis
In early infancy the diagnosis of SAS can be particularly difficult to appreciate when developmental delay, hypotonia, feeding difficulties, and palatal issues are the only observable features. During infancy and early childhood, many children with SAS have been tested for Angelman syndrome and related disorders. Over time, the emergence of dental issues and distinctive behavioral issues along with lack of speech progression should lead clinicians to consider this diagnosis. SATB2-associated syndrome should be distinguished from other syndromes that include developmental delay and dental abnormalities, such as KBG syndrome.
### Table 3.
Disorders to Consider in the Differential Diagnosis of SATB2-Associated Syndrome (SAS)
View in own window
DisorderGeneMOIDD / ID &
Speech DelayCraniofacial Dysmorphism / AnomaliesDental AnomaliesBehavioral FindingsSkeletal/Other
SATB2-associated syndrome (the subject of this GeneReview)SATB2ADSome degree of ID in all known patients; severe DD/ID w/absent speech in ~50%At least minor facial dysmorphic features in most published individuals. 1
Craniofacial anomalies incl cleft palate, high-arched palateMost common finding: abnormal shape or size of upper central incisors.
Other findings (variably seen): crowding, hypodontia, diastema, delayed primary dentitionJovial or friendly personality, autistic tendencies, agitation or aggressive outbursts, hyperactivity, sleeping difficultiesPectus deformities, kyphosis/lordosis, scoliosis, osteopenia
Angelman syndromeSee footnote 2.See footnote 2.Severe DD or ID, severe speech impairmentTypically not assoc w/anomalies as seen in SASTypically not assoc w/findings seen in SASUnique behavior w/inappropriate happy demeanor incl frequent laughing, smiling, excitabilityTypically not assoc w/anomalies seen in SAS
KBG syndromeANKRD11ADDD, IDFacial dysmorphic features incl triangular face, low anterior & posterior hairlines, bushy eyebrows, large prominent ears, anteverted nostrils w/hypoplastic alae nasi.
Palatal anomalies not commonMacrodontia of upper central incisorsASD, ADHD, anxiety, temper tantrums, compulsive & aggressive behaviorsBone age often delayed; short stature prevalent; hand anomalies
AD = autosomal dominant; ADHD = attention deficit/hyperactivity disorder; AR = autosomal recessive; ASD = autism spectrum disorder; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance
1\.
Consistent features associated with larger 2q33.1 deletions include: prominent forehead or high anterior hairline, thin vermilion of the upper lip, low-set ears, long face. Consistent features associated with pathogenic missense, nonsense, and frameshift variants include: long and flat philtrum and thin vermilion of the upper lip [Zarate & Fish 2017; Author, personal observation].
2\.
Angelman syndrome is caused by disruption of maternally imprinted UBE3A located within the 15q11.2-q13 Angelman syndrome/Prader-Willi syndrome (AS/PWS) region. The risk to sibs of a proband depends on the genetic mechanism leading to the loss of UBE3A function.
## Management
### Evaluations and Referrals Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with SATB2-associated syndrome (SAS), the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to diagnosis) are recommended:
### Table 4.
Recommended Evaluations and Referrals Following Initial Diagnosis of SATB2-Associated Syndrome
View in own window
Organ SystemEvaluationComment
NeurologicDevelopmentalW/specific focus on nonverbal language ability
Neuropsychological assessmentFor behavioral problems
EEG if seizures suspectedReferral to neurologist for seizure disorder management
Consider head MRI if seizures present
OropharynxExamination for palatal anomaliesReferral to craniofacial team or otolaryngologist as needed
Dental, for abnormal tooth shape, number, & locationReferral to dentist
GastrointestinalFeedingConsider videofluoroscopic swallowing study
Growth (weight, length/height, growth velocity)Consider referral to endocrinologist as needed
MusculoskeletalAssessment for skeletal anomalies (e.g., scoliosis, kyphosis, tibial bowing)Referral to orthopedist as needed
Assessment for ↓ bone mineralization (e.g., recurrent fractures, ↑ alkaline phosphatase levels)Consider bone mineral density scan
GenitourinaryFor undescended testes, inguinal hernias, & hypospadias in males
EyesOphthalmology for strabismus & refractive errorsIncl visual acuity & dilated fundus examination
CardiacConsider echocardiogramIn those w/larger deletions incl SATB2 & adjacent genes
Miscellaneous/
OtherPhysical therapyIf hypotonia present
Consultation w/clinical geneticist &/or genetic counselor
### Treatment of Manifestations
Treatment is symptomatic; no specific therapy is available. The following are appropriate interventions [Zarate & Fish 2017].
### Table 5.
Treatment of Manifestations in Individuals with SATB2-Associated Syndrome
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
intellectual disabilityEarly referral for developmental support / special educationSee text following table
Dental anomaliesAs per routine
Cleft palate, bifid uvula, micrognathiaManagement by cleft/craniofacial team; surgical correction of cleft palate
Feeding difficultiesNutritional supportReferral to gastroenterologist for those w/persistent issues
Sleep disturbanceSleep hygiene healthy habits & potential medical management as needed
Scoliosis, tibial bowing, joint contracturesStandard treatment per orthopedist
OsteopeniaTreatment remains unclearDenosumab used in 1 affected patient, pamidronate infusions used in 2 patients; long-term response to these treatments unknown [Boone et al 2016, Zarate et al 2018]
Seizure disorderStandard treatment per neurologist
Undescended testes, inguinal hernia, hypospadiasStandard treatment per urologist
Strabismus & refractive errorStandard treatment per ophthalmologist
Congenital heart defectsStandard therapy per cardiologist
#### Developmental Delay / Intellectual Disability Management Issues
The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary by country.
Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy. In the US, early intervention is a federally funded program available in all states.
Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed.
Ages 5-21 years
* In the US, an IEP based on the individual's level of function should be developed by the local public school district. Affected children are permitted to remain in the public school district until age 21.
* Discussion about transition plans including financial, vocation/employment, and medical arrangements should begin at age 12 years. Developmental pediatricians can provide assistance with transition to adulthood.
All ages. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life.
Consideration of private supportive therapies based on the affected individual's needs is recommended. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.
In the US:
* Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.
* Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.
#### Motor Dysfunction
Gross motor dysfunction
* Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications (e.g., contractures, scoliosis, hip dislocation).
* Consider use of durable medical equipment as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers).
Fine motor dysfunction. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding and dressing.
Oral motor dysfunction. Assuming that the individual is safe to eat by mouth, feeding therapy – typically from an occupational or speech therapist – is recommended for affected individuals who have difficulty feeding due to poor oral motor control.
Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties.
#### Social/Behavioral Concerns
Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications when necessary.
Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and is typically performed one on one with a board-certified behavior analyst.
### Surveillance
Periodic reevaluation by a clinical geneticist to apprise the family of new developments and/or recommendations is suggested. Surveillance may also include the following [Zarate & Fish 2017]:
### Table 6.
Recommended Surveillance for Individuals with SATB2-Associated Syndrome
View in own window
System/ConcernEvaluationFrequency/Comment
NeurologicDevelopmental assessmentsRoutine intervals to adjust therapies & adapt educational needs
By neurologistPer routine for individuals w/epilepsy
ENT/MouthDentistry/orthodontics; audiologyRoutine intervals
GrowthEvaluation of nutritional status & growthAt each visit
RespiratorySleep study (if history of sleep disturbance)As needed
MusculoskeletalEvaluate for scoliosis & spine deformitiesAt each visit
Screening for osteopenia
EyesOphthalmology to screen for refractive errors & strabismusRoutine intervals
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
SATB2-Associated Syndrome
|
c4706258
| 27,115 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK458647/
| 2021-01-18T20:59:46 |
{"synonyms": ["2q32 Deletion Syndrome", "2q33.1 Microdeletion Syndrome", "Glass Syndrome"]}
|
Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
## Epidemiology
Prevalence is unknown but isolated hereditary pRTA is very rare. Drug-induced pRTA occurs relatively frequently.
## Clinical description
The onset of hereditary pRTA varies from infancy to adulthood, manifesting initially with very alkaline urine due to bicarbonate wastage. Autosomal recessive pRTA (AR pRTA; see this term) is associated with severe growth retardation leading to short stature, intellectual disability and ocular abnormalities such as band keratopathy, cataracts, and glaucoma. Growth retardation and reduced bone density, due to metabolic acidosis, are seen in autosomal dominant pRTA (AD pRTA; see this term). Hypokalemia may be present in some cases of pRTA and can occasionally cause symptoms of hypokalemic periodic paralysis (see this term). Rickets and osteomalacia are common due to vitamin D deficiency and phosphate wasting. In cases where pRTA is associated with primary Fanconi syndrome (see this term), glycosuria, aminoaciduria, phosphaturia, uric acid wastage and tubular proteinuria can occur.
## Etiology
Isolated pRTA can be acquired or is inherited either recessively (in most cases) or dominantly. AR pRTA is due to a mutation in the SLC4A4 gene (4q13.3) that encodes the electrogenic sodium bicarbonate cotransporter 1 (kNBC1). AD pRTA is due to mutations in a gene that has not yet been identified. As the proximal tubule reabsorbs around 80% of the filtered load of bicarbonate, a defect in it leads to the loss of bicarbonate. Certain drugs can be responsible for the development of acquired pRTA. Carbonic anhydrase inhibitors cause isolated pRTA while others (including oxaplatin, ifosfamide, adefovir, tenofovir, cidofovir, valproic acid, aminoglycosides, topiramate and didanosine) can all cause pRTA associated with Fanconi syndrome (see this term). In glomerular diseases, pRTA has been rarely reported and attributed to associated tubular damage and, in some cases, has been associated with multiple myeloma (see this term).
## Diagnostic methods
Unlike patients with distal RTA (dRTA; see this term), patients with pRTA retain the ability to lower urine pH < 5.5 when the plasma HCO3- is low enough and below the renal threshold for tubular HCO3- reabsorption. Diagnosis involves the demonstration of urinary HCO3-wastage (increased fractional HCO3- excretion). An HCO3 titration test confirms a diagnosis of pRTA by demonstrating an exaggerated increase in urinary HCO3- excretion and urine pH as plasma HCO3- rises above the renal threshold. Molecular genetic analysis can identify a mutation in the SLC4A4 gene.
## Differential diagnosis
The main differential diagnosis is dRTA. Other inherited proximal tubulopathies such as oculocerebrorenal syndrome, Dent disease and glycogen storage disease due to GLUT2 deficiency (see these terms) should be excluded.
## Antenatal diagnosis
Antenatal diagnosis is not performed.
## Genetic counseling
In sporadic cases, genetic counseling is not possible but it can be given to those where pRTA is inherited either in an autosomal dominant or recessive manner.
## Management and treatment
Treatment depends on the etiology of the disease. Inherited pRTA requires life-long bicarbonate replacement therapy. Large amounts of bicarbonate (10-15 mEq/kg/day) are needed to normalize serum bicarbonate in children. Thiazide diuretics (e.g. hydrochlorothiazide 25-50 mg daily) are also sometimes prescribed in order to enhance bicarbonate reabsorption and thereby reduce the amount of bicarbonate needed. Plasma potassium should be monitored and a mixture of sodium and potassium bicarbonate salts can be necessary in some cases. Drug induced pRTA is usually reversible by cessation of the drug.
## Prognosis
With proper treatment the prognosis is good.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Proximal renal tubular acidosis
|
c0268435
| 27,116 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=47159
| 2021-01-23T17:15:49 |
{"mesh": ["D000141"], "omim": ["179830", "604278"], "umls": ["C0268435"], "icd-10": ["N25.8"], "synonyms": ["Renal tubular acidosis type 2", "pRTA"]}
|
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Familial hyperaldosteronism" – news · newspapers · books · scholar · JSTOR (April 2019)
Familial hyperaldosteronism
SpecialtyEndocrinology
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone.[1] Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and causes high blood pressure.[1] People with familial hyperaldosteronism may develop severe high blood pressure, often early in life.[1] Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.[1] There are other forms of hyperaldosteronism that are not inherited.[1]
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.[1] The various types of familial hyperaldosteronism have different genetic causes.[1]
It is unclear how common these diseases are.[1] All together they appear to make up less than 1% of cases of hyperaldosteronism.
## Contents
* 1 Types
* 1.1 Type I
* 1.2 Type II
* 1.3 Type III
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Types[edit]
Familial hyperaldosteronism is categorized into three types, distinguished by their clinical features and genetic causes.[1]
### Type I[edit]
In familial hyperaldosteronism type I, hypertension generally appears in childhood to early adulthood and can range from mild to severe.[1] This type can be treated with steroid medications called glucocorticoids, so it is also known as glucocorticoid remediable aldosteronism (GRA).[1]
### Type II[edit]
In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment.[1]
### Type III[edit]
In most with familial hyperaldosteronism type III, the adrenal glands are enlarged up to six times their normal size.[1] These affected have severe hypertension that starts in childhood.[1] The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys.[1] Rarely, individuals with type III have milder symptoms with treatable hypertension and no adrenal gland enlargement.[1]
## Cause[edit]
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzymes that are found in the adrenal glands.[1]
The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme helps produce hormones called cortisol and corticosterone. The CYP11B2 gene provides instructions for making another enzyme called aldosterone synthase, which helps produce aldosterone. When CYP11B1 and CYP11B2 are abnormally fused together, too much aldosterone synthase is produced. This overproduction causes the adrenal glands to make excess aldosterone, which leads to the signs and symptoms of familial hyperaldosteronism type I.[1]
Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. In the adrenal glands, the flow of ions through potassium channels produced from the KCNJ5 gene is thought to help regulate the production of aldosterone. Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III.[1]
The genetic cause of familial hyperaldosteronism type II is unknown.[1]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (November 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (November 2017)
## See also[edit]
* 18-Hydroxycortisol
* 18-Hydroxycorticosterone
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t "Familial hyperaldosteronism". Genetics home reference. April 2014. Retrieved 8 April 2015.
## External links[edit]
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This article incorporates text from the United States National Library of Medicine ([1]), which is in the public domain.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Familial hyperaldosteronism
|
c3713420
| 27,117 |
wikipedia
|
https://en.wikipedia.org/wiki/Familial_hyperaldosteronism
| 2021-01-18T18:55:08 |
{"mesh": ["C580087"], "orphanet": ["371861"], "synonyms": [], "wikidata": ["Q25339349"]}
|
Retinopathy of prematurity
Other namesTerry syndrome,[1] retrolental fibroplasia (RLF)
SpecialtyOphthalmology
Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a disease of the eye affecting prematurely born babies generally having received neonatal intensive care, in which oxygen therapy is used due to the premature development of their lungs. It is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and retinal detachment. ROP can be mild and may resolve spontaneously, but it may lead to blindness in serious cases. Thus, all preterm babies are at risk for ROP, and very low birth-weight is an additional risk factor. Both oxygen toxicity and relative hypoxia can contribute to the development of ROP.
It was first reported by Theodore L. Terry in 1942.[2]
## Contents
* 1 Causes
* 1.1 Risk factors
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 International classification
* 3.2 Plus disease
* 3.3 Differential diagnosis
* 4 Screening
* 4.1 Timing
* 4.2 Procedure
* 4.3 Monitoring
* 5 Management
* 5.1 Treatment
* 5.2 Follow up
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 9 References
* 10 External links
## Causes[edit]
By the fourth month of pregnancy, the fetal retina has begun to develop vascularization. Such formation of blood vessels appears to be very sensitive to the amount of oxygen supplied, either naturally or artificially. In rare cases ROP has been found in some patients with a mutation in the NDP gene, which is normally associated with the more formidable Norrie disease.[3][4][5]
### Risk factors[edit]
Various risk factors contribute to the development of ROP. They are:
* Prematurity[6]
* High exposure to oxygen
* Low birth weight
* Various types of infections
* Cardiac defects
## Pathophysiology[edit]
During development, blood vessels grow from the central part of the retina outwards. This process is completed a few weeks before the normal time of delivery. However, in premature babies it is incomplete. If blood vessels grow normally, ROP does not occur. If the vessels grow and branch abnormally the baby develops ROP. These abnormal blood vessels may grow up from the plane of the retina and may bleed inside the eye. When the blood and abnormal vessels are reabsorbed, it may give rise to multiple band like membranes which can pull up the retina, causing detachment of the retina and eventually blindness before 6 months.[citation needed]
Normally, maturation of the retina proceeds in utero, and at term, the medial portion (Nasal retina) of the retina is fully vascularized, while the lateral portion (Temporal retina) is only incompletely vascularized.[7] The normal growth of the blood vessels is directed to relatively low-oxygen areas of the retina, but the vessels remain in the plane of the retina and do not grow into the vitreous humor. If excess oxygen is given, normal blood vessels degrade and cease to develop. When the excess oxygen environment is removed, the blood vessels rapidly begin forming again and grow into the vitreous humor of the eye from the retina.[7][8]
The key disease element in ROP is fibrovascular proliferation. This is growth of abnormal new vessels; this may regress, but frequently progresses. Associated with the growth of these new vessels is fibrous tissue (scar tissue) that may contract to cause retinal detachment. Multiple factors can determine whether the disease progresses, including overall health, birth weight, the stage of ROP at initial diagnosis, and the presence or absence of "plus disease". Supplemental oxygen exposure, while a risk factor, is not the main risk factor for development of this disease. Restricting supplemental oxygen use reduces the rate of ROP, but may raise the risk of other hypoxia-related systemic complications, including death.[9]
Patients with ROP, particularly those who have developed severe disease needing treatment are at greater risk for strabismus, glaucoma, cataracts and shortsightedness (myopia) later in life and should be examined yearly to help prevent or detect and treat these conditions.
## Diagnosis[edit]
The stages of ROP disease have been defined by the International Classification of Retinopathy of Prematurity (ICROP).
In older patients, the appearance of the disease is less well described but includes the residua of the ICROP stages as well as secondary retinal responses.
### International classification[edit]
The system used for describing the findings of active ROP is entitled The International Classification of Retinopathy of Prematurity (ICROP).[10] ICROP uses a number of parameters to describe the disease. They are location (zone) of the disease, the circumferential extent of the disease based on the clock hours, the severity (stage) of the disease and the presence or absence of "Plus Disease". Each aspect of the classification has a technical definition. This classification was used for the major clinical trials. It was revised in 2005.[11]
Zones of the retina in ROP
The zones are centered on the optic nerve. Zone I is the posterior zone of the retina, defined as the circle with a radius extending from the optic nerve to double the distance to the macula. Zone II is an annulus with the inner border defined by zone I and the outer border defined by the radius defined as the distance from the optic nerve to the nasal ora serrata. Zone III is the residual temporal crescent of the retina.
The circumferential extent of the disease is described in segments as if the top of the eye were 12 on the face of an analog clock, e.g. stage 1 from 4:00 to 7:00. (The extent is a bit less important since the treatment indications from the Early Treatment for ROP.)[12]
The Stages describe the ophthalmoscopic findings at the junction between the vascularized and avascular retina.
* Stage 1 is a faint demarcation line.
* Stage 2 is an elevated ridge.
* Stage 3 is extraretinal fibrovascular tissue.
* Stage 4 is sub-total retinal detachment.
* Stage 5 is total retinal detachment.
### Plus disease[edit]
Plus disease can be present as a major complicating factor at any stage. It is characterised by:
* Significant level of vascular dilation and tortuosity observed at the posterior retinal arterioles. This reflects the increase of blood flow through the retina.[13]
* Vitreous haze and anterior chamber haze[13]
* Iris vascular engorgement[13]
* Persistent tunica vasculosa lentis or immature blood vessels growing over the lens which also restrict the dilatation of the pupils.[13]
### Differential diagnosis[edit]
The most difficult aspect of the differential diagnosis may arise from the similarity of two other diseases:
* Familial exudative vitreoretinopathy which is a genetic disorder that also disrupts the retinal vascularization in full-term infants.
* Persistent fetal vasculature syndrome also known as persistent hyperplastic primary vitreous that can cause a traction retinal detachment difficult to differentiate but typically unilateral.
## Screening[edit]
Almost all infants with ROP have a gestational age of 31 weeks or less (regardless of birth weight) or a birth weight of 1250 g (2.76 lbs) or less; these indications are generally used to decide whether a baby should be screened for ROP, but some centres, especially in developing countries [3] extend birth weight screening criteria to 1500 g (3.3 lbs).[14]
Any premature baby with severe illness in perinatal period (Respiratory distress syndrome, sepsis, blood transfusion, Intra ventricular haemorrhage, apnoeic episodes, etc.) may also be offered ROP screening.
### Timing[edit]
Retinal examination with scleral depression is generally recommended for patients born before 30–32 weeks gestation, or 4–6 weeks of life, whichever is later. It is then repeated every 1–3 weeks until vascularization is complete (or until disease progression mandates treatment).
### Procedure[edit]
Following pupillary dilation using eye drops, the retina is examined using a special lighted instrument (an indirect ophthalmoscope). The peripheral portions of the retina are sometimes pushed into view using scleral depression. Examination of the retina of a premature infant is performed to determine how far the retinal blood vessels have grown (the zone), and whether or not the vessels are growing flat along the wall of the eye (the stage). Once the vessels have grown into zone III (see below) it is usually safe to discharge the child from further screening for ROP. The stage of ROP refers to the character of the leading edge of growing retinal blood vessels (at the vascular-avascular border).
### Monitoring[edit]
In order to allow timely intervention, a system of monitoring is undertaken for infants at risk of developing ROP. These monitoring protocols differ geographically because the definition of high-risk is not uniform or perfectly defined. In the USA the consensus statement of experts is informed by data derived by clinical trials and published in Pediatrics 2006. They included infants with birthweights under 1500 grams or under 30 weeks gestation in most cases. The first examination should take place within the first 4 weeks of birth, and regular, weekly examination is required until it is clear that the eyes are not going to develop disease needing treatment, or one or both eyes develop disease requiring treatment. Treatment should be administered within a 48 hours, as the condition can progress rapidly.
## Management[edit]
### Treatment[edit]
The retina (red) is detached at the top of the eye.
The silicone band (scleral buckle, blue) is placed around the eye. This brings the wall of the eye into contact with the detached retina, allowing the retina to re-attach.
* Peripheral retinal ablation is the mainstay of ROP treatment. The destruction of the avascular retina is performed with a solid state laser photocoagulation device, as these are easily portable to the operating room or neonatal ICU. Cryotherapy, an earlier technique in which regional retinal destruction was done using a probe to freeze the desired areas, has also been evaluated in multi-center clinical trials as an effective modality for prevention and treatment of ROP. However, when laser treatment is available, cryotherapy is no longer preferred for routine avascular retinal ablation in premature babies, due to the side effects of inflammation and lid swelling. Further more recent trials have shown that treatment at an earlier stage of the disease gives better results.[15]
* Scleral buckling and/or vitrectomy surgery may be considered for severe ROP (stages 4 and 5) for eyes that progress to retinal detachment. Few centers in the world specialize in this surgery, because of its attendant surgical risks and generally poor outcomes.
* Intravitreal injection of bevacizumab (Avastin) has been reported as a supportive measure in aggressive posterior retinopathy of prematurity.[16] In a 2011 clinical trial comparing bevacizumab with conventional laser therapy, intravitreal bevacizumab monotherapy showed a significant benefit for zone I but not zone II disease when used to treat infants with stage 3+ retinopathy of prematurity.[17] Potential benefits of intravitreal Avastin injection over laser therapy include: reduction in level of anesthesia required, preservation of viable peripheral retina, and, possibly, reduced incidence of subsequent high refractive error. However, the safety of this new treatment has not yet been established in terms of ocular complications as well as systemic complications. The latter are theoretically possible, as the active ingredient of bevacizumab not only blocks the development of abnormal blood vessels in the eye but may also prevent the normal development ofother tissues such as the lung and kidney. A 2018 Cochrane review also examined the effectiveness of Anti-vascular Endothelial Growth Factor Drugs and their use for ROP.[18]
* Oral propranolol is being evaluated for counteracting the progression of ROP, but safety is a concern. A prospective randomized trial in which pre-term newborns were randomized to receiving oral propranolol with standard treatment or standard treatment alone found that oral propranolol showed a 48% relative risk reduction for progression to stage 3, 58% reduction for progression to stage 3 plus, and 100% reduction for progression to stage 4\. Furthermore, there was a 52% relative risk reduction for the need for laser treatment or intravitreal bevacizumab. However 19% of the newborns experienced serious adverse effects including hypotension and bradycardia.[19] A study in a mouse model of human ROP has shown that beta-blockade is protective against retinal angiogenesis and ameliorate blood-retinal barrier dysfunction.[20]
### Follow up[edit]
* Once diagnosed with ROP lifelong follow up (yearly) is performed in some centers. In others, only children treated for ROP are followed yearly.
* Follow up after laser or anti-VEGF treatment is individualized.
* Follow up of premature children (with or without ROP) is varying among centers and countries, mirroring the diverse states of health care system in different countries.
## Prognosis[edit]
Stages 1 and 2 do not lead to blindness. However, they can progress to the more severe stages. Threshold disease is defined as disease that has a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 ROP is present in either zone I or zone II, with at least five continuous or eight total clock hours of disease, and the presence of plus disease.[21] Progression to stage 4 (partial retinal detachment), or to stage 5 (total retinal detachment), will result in substantial or total loss of vision for the infant.
* Refractive errors (most common)
* Squint
* Amblyopia
* Retinal detachment and blindness
* Glaucoma
## Epidemiology[edit]
ROP prevalence varies, from 5 to 8% in developed countries with adequate neonatological facilities, to up to 30% in middle-income developing countries.[22]
There is increasing evidence that ROP and blindness due to ROP are now public health problems in the middle income countries of Latin America, Eastern Europe and the more advanced economies in South East Asia and the Middle east region. In these countries ROP is often the most common cause of blindness in children.[23][24] ROP is highly likely to become an increasing problem in India, China and other countries in Asia as these countries expand the provision of services for premature infants.
There is also evidence that the population of premature infants at risk of severe ROP varies depending on the level of neonatal intensive care being provided.[23] In countries with high development indices and very low neonatal mortality rates (e.g. North America, Western Europe), severe ROP is generally limited to extremely preterm infants i.e. those weighing less than 1 kg (2.2 lbs) at birth. At the other end of the development spectrum, countries with very low development indices and very high neonatal mortality rates (e.g. much of subSaharan Africa) ROP is rare as most premature babies do not have access to neonatal intensive care and so do not survive. Countries with moderate development indices are improving access to neonatal intensive care, and in these settings bigger, more mature babies are also at risk of severe ROP as neonatal care may be suboptimal. These findings have two main implications: firstly, much can be done in countries with moderate development indices to improve neonatal care, to reduce the risk of severe ROP in bigger babies and increase survival of extremely preterm infants, and secondly, in these settings bigger more mature babies need to be included in ROP programs and examined regularly so as to detect those babies developing ROP requiring treatment.
In 2012, the World Health Organization published data on rates of preterm birth and the number of premature babies born in different regions of the world.[25] This report contained three main findings:
* Premature birth has many different causes, and prevention is challenging,
* Prematurity is the most common cause of neonatal death in many countries, totaling as many as 1 million infants annually due to complications of preterm birth, and
* the number of preterm births is currently estimated to be 15 million, and increasing.
## History[edit]
This disease was first described in a premature baby in 1942. Between 1941–1953, over 12,000 babies worldwide were affected by it. Soul musician Stevie Wonder, actor Tom Sullivan, and jazz singer Diane Schuur are a few famous people who have the disease.
The first case of the epidemic was seen on St. Valentine's Day in 1941 when a premature baby in Boston was diagnosed. Cases were then seen all over the world and the cause was, at that point, unknown. By 1951 a clear link between incidence and affluence became clear: many cases were seen in developed countries with organized and well-funded health care. Two British scientists suggested that it was oxygen toxicity that caused the disease. Babies born prematurely in such affluent areas were treated in incubators which had artificially high levels of oxygen. Studies on rats made this cause seem more likely, but the link was eventually confirmed by a controversial study undertaken by American pediatricians. The study involved two groups of babies. Some[26] given the usual oxygen concentrations in their incubators, while the other group had "curtailed" oxygen levels. The latter group was shown to have a lower incidence of the disease. As a result, oxygen levels in incubators were lowered and consequently, the epidemic was halted. Each case of ROP avoided by withholding oxygen "may have cost some 16 deaths".[27]
## References[edit]
1. ^ "Terry Syndrome". Stedman's Medical Dictionary. Lippincott Williams & Wilkins. 2006.
2. ^ Lambert, Scott R.; Lyons, Christopher J. (2016-10-31). Taylor and Hoyt's pediatric ophthalmology and strabismus. Lambert, Scott R.,, Lyons, Christopher J. (Fifth ed.). Edinburgh. ISBN 9780702066160. OCLC 960162637.
3. ^ Shastry, BS; Pendergast, SD; Hartzer, MK; Liu, X; Trese, MT (May 1997). "Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity". Archives of Ophthalmology. 115 (5): 651–5. doi:10.1001/archopht.1997.01100150653015. PMID 9152134.
4. ^ Dickinson, JL; Sale, MM; Passmore, A; FitzGerald, LM; Wheatley, CM; Burdon, KP; Craig, JE; Tengtrisorn, S; Carden, SM; Maclean, H; Mackey, DA (Sep–Oct 2006). "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity". Clinical & Experimental Ophthalmology. 34 (7): 682–8. doi:10.1111/j.1442-9071.2006.01314.x. PMID 16970763.
5. ^ Shastry, Barkur S (1 January 2010). "Genetic susceptibility to advanced retinopathy of prematurity (ROP)". Journal of Biomedical Science. 17 (1): 69. doi:10.1186/1423-0127-17-69. PMC 2933676. PMID 20738858.
6. ^ Karna, P.; Muttineni, J.; Angell, L.; Karmaus, W. (2005). "Retinopathy of prematurity and risk factors: A prospective cohort study". BMC Pediatrics. 5 (1): 18. doi:10.1186/1471-2431-5-18. PMC 1175091. PMID 15985170.
7. ^ a b Kumar, Vinay (2007). "Chapter 29: Eye, Retina and Vitreous, Retinal Vascular Disease". Robbins basic pathology (8th ed.). Philadelphia: Saunders/Elsevier. ISBN 978-1416029731.
8. ^ Guyton, Arthur; Hall, John (2006). "Chapter 17: Local and Humoral Control of Blood Flow by the Tissues". In Gruliow, Rebecca (ed.). Textbook of Medical Physiology (Book) (11th ed.). Philadelphia, Pennsylvania: Elsevier Inc. p. 200. ISBN 978-0-7216-0240-0.
9. ^ Stenson; BOOST ll Cooperative Groups (2013). "Oxygen Saturation and Outcomes in Preterm Infants" (PDF). New England Journal of Medicine. 368 (22): 2094–2104. doi:10.1056/nejmoa1302298. PMID 23642047.
10. ^ Committee for the Classification of Retinopathy of Prematurity (Aug 1984). "An international classification of retinopathy of prematurity". Arch. Ophthalmol. 102 (8): 1130–1134. doi:10.1001/archopht.1984.01040030908011. PMID 6547831.
11. ^ Committee for the Classification of Retinopathy of Prematurity (Jul 2005). "The International Classification of Retinopathy of Prematurity revisited". Arch. Ophthalmol. 123 (7): 991–999. doi:10.1001/archopht.123.7.991. PMID 16009843.
12. ^ Early Treatment for Retinopathy of Prematurity Cooperative Group (2003). "Revised indications for the treatment of retinopathy of prematurity: results of the early treatment for retinopathy of prematurity randomized trial". Arch. Ophthalmol. 121 (12): 1684–1696. doi:10.1001/archopht.121.12.1684. PMID 14662586.
13. ^ a b c d Retinopathy of Prematurity at eMedicine
14. ^ Jefferies, AL; Canadian Paediatric Society; Fetus and Newborn Committee (1 December 2010). "Retinopathy of prematurity: Recommendations for screening". Paediatrics & Child Health. 15 (10): 667–0. doi:10.1093/pch/15.10.667. PMC 3006218. PMID 22131866. Retrieved 9 March 2013.
15. ^ Dobson, V.; Quinn, G. E.; Summers, C. G.; Hardy, R. J.; Tung, B.; Good, W. V.; Good, W. V. (2011). "Grating Visual Acuity Results in the Early Treatment for Retinopathy of Prematurity Study". Archives of Ophthalmology. 129 (7): 840–846. doi:10.1001/archophthalmol.2011.143. PMC 4374597. PMID 21746974.
16. ^ Shah PK, Narendran V, Tawansy KA, Raghuram A, Narendran K (2007). "Intravitreal bevacizumab (Avastin) for post laser anterior segment ischemia in aggressive posterior retinopathy of prematurity". Indian Journal of Ophthalmology. 55 (1): 75–76. doi:10.4103/0301-4738.29505. PMID 17189897.
17. ^ Mintz-Hittner, HA; Kennedy, KA; Chuang, AZ; Beat-Rop Cooperative, Group (2011). "Efficacy of intravitreal bevacizumab for stage 3+ retinopathy of prematurity". The New England Journal of Medicine. 364 (7): 603–15. doi:10.1056/NEJMoa1007374. PMC 3119530. PMID 21323540.
18. ^ Sankar, Mari Jeeva; Sankar, Jhuma; Chandra, Parijat (8 January 2018). "Anti-vascular endothelial growth factor (VEGF) drugs for treatment of retinopathy of prematurity". The Cochrane Database of Systematic Reviews. 1: CD009734. doi:10.1002/14651858.CD009734.pub3. ISSN 1469-493X. PMC 6491066. PMID 29308602.
19. ^ Filippi L (2013). [1] J Pediatr. 2013 Dec;163(6):1570-1577.e6
20. ^ Ristori C (2011). [2] Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):155-70.
21. ^ Phelps, D.L. (2001). "Retinopathy of Prematurity: History, Classification, and Pathophysiology". NeoReviews. 2 (7): e153–e166. doi:10.1542/neo.2-7-e153.
22. ^ Gergely, K.; Gerinec, A. (2010). "Retinopathy of prematurity—epidemics, incidence, prevalence, blindness". Bratislavske Lekarske Listy. 111 (9): 514–517. PMID 21180268.
23. ^ a b Gilbert, C.; Fielder, A.; Gordillo, L.; Quinn, G.; Semiglia, R.; Visintin, P.; Zin, A.; International No-Rop, G. (2005). "Characteristics of Infants with Severe Retinopathy of Prematurity in Countries with Low, Moderate, and High Levels of Development: Implications for Screening Programs". Pediatrics. 115 (5): e518–e525. doi:10.1542/peds.2004-1180. PMID 15805336. Retrieved 9 June 2013.
24. ^ Limburg, H.; Gilbert, C.; Hon, D. N.; Dung, N. C.; Hoang, T. H. (2012). "Prevalence and Causes of Blindness in Children in Vietnam". Ophthalmology. 119 (2): 355–361. doi:10.1016/j.ophtha.2011.07.037. PMID 22035577.
25. ^ "Born Too Soon: The Global Action Report on Preterm Birth". World Health Organization. 2012. Retrieved 9 June 2013.
26. ^ Silverman, William A. (November 1980). Retrolental fibroplasia: a modern parable. Grune & Stratton. Retrieved 21 September 2013.
27. ^ Silverman, William A. (November 1980). Retrolental fibroplasia: a modern parable. Grune & Stratton. Retrieved 21 September 2013. "Chapter 8: "The Consequences of Oxygen Restriction""
## External links[edit]
* Retinopathy of Prematurity Resource Guide from the National Eye Institute (NEI).
* Merck Manual entry on ROP
* World ROP Congress Archives of the International Conferences on ROP.
Classification
D
* ICD-10: H35.1
* ICD-9-CM: 362.20, 362.21
* OMIM: 133780
* MeSH: D012178
* DiseasesDB: 11442
External resources
* MedlinePlus: 001618
* eMedicine: oph/413 ped/1998
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* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Retinopathy of prematurity
|
c0035344
| 27,118 |
wikipedia
|
https://en.wikipedia.org/wiki/Retinopathy_of_prematurity
| 2021-01-18T18:28:24 |
{"gard": ["5695"], "mesh": ["D012178"], "umls": ["C0035344"], "orphanet": ["90050"], "wikidata": ["Q1423087"]}
|
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Adult-onset autosomal recessive cerebellar ataxia
|
c3150998
| 27,119 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=284289
| 2021-01-23T18:16:43 |
{"omim": ["613728"], "icd-10": ["G11.2"], "synonyms": ["Autosomal recessive spinocerebellar ataxia type 10", "SCAR10"]}
|
Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.
## Epidemiology
Prevalence of this form of corneal dystrophy is not known. Cases have been reported in Germany, the USA and in other countries.
## Clinical description
Corneal erosions develop in the first and second decade of life and cause ocular discomfort and pain. The erosions recur and vision gradually becomes impaired.
## Etiology
Thiel-Behnke corneal dystrophy appears to be caused by mutation in the TGFBI gene (5q31), like Reis-Bücklers corneal dystrophy. However, there appears to be genetic heterogeneity as another locus has also been identified on chromosome 10 (10q23-q24).
## Diagnostic methods
Histological examinations reveal a variable thickness of the corneal epithelium. The epithelial basal lamina and Bowman layer display variable degenerative changes. Irregular subepithelial collagenous tissue is also found.
## Differential diagnosis
TBCD is clinically similar to Reis-Bücklers corneal dystrophy (RBCD, see this term), but generally has a less severe course. Tissue examination or molecular genetic analysis can be used to differentiate TBCD and RBCD.
## Genetic counseling
This entity has an autosomal dominant mode of inheritance.
## Management and treatment
The pathologic corneal tissue can be excised surgically or with an eximer laser.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Thiel-Behnke corneal dystrophy
|
c1562894
| 27,120 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98960
| 2021-01-23T17:54:44 |
{"gard": ["9275"], "mesh": ["C535942"], "omim": ["602082"], "umls": ["C1562894"], "icd-10": ["H18.5"], "synonyms": ["Anterior limiting membrane dystrophy type 2", "Anterior limiting membrane dystrophy type II", "Corneal dystrophy of Bowman layer type 2", "Corneal dystrophy of Bowman layer type II", "Curly fiber corneal dystrophy", "Honeycomb corneal dystrophy", "TBCD", "Waardenburg-Jonker corneal dystrophy"]}
|
Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Combined oxidative phosphorylation defect type 4
|
c1857682
| 27,121 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254925
| 2021-01-23T17:16:32 |
{"mesh": ["C565690"], "omim": ["610678"], "umls": ["C1857682"], "icd-10": ["E88.8"], "synonyms": ["COXPD4"]}
|
Toxic epidermal necrolysis
Other namesLyell syndrome, Lyell's syndrome[1]
Characteristic skin loss of toxic epidermal necrolysis
SpecialtyDermatology
SymptomsFever, skin blisters, skin peeling, painful skin, red eyes[2]
ComplicationsDehydration, sepsis, pneumonia, multiple organ failure.[2]
Usual onsetAge > 40[3]
Risk factorsHIV/AIDS, systemic lupus erythematosus, genetics[2]
Diagnostic method> 30% of the skin involved, skin biopsy[3]
Differential diagnosisChickenpox, staphylococcal epidermolysis, staphylococcal scalded skin syndrome, autoimmune bullous disease[3]
TreatmentHospitalization, stopping the cause, pain medication[3]
PrognosisMortality 20–50%[2][3]
Frequency1–2 per million per year (together with SJS)[2]
Toxic epidermal necrolysis (TEN) is a type of severe skin reaction.[2] Together with Stevens–Johnson syndrome (SJS) it forms a spectrum of disease, with TEN being more severe.[2] Early symptoms include fever and flu-like symptoms.[2] A few days later the skin begins to blister and peel forming painful raw areas.[2] Mucous membranes, such as the mouth, are also typically involved.[2] Complications include dehydration, sepsis, pneumonia, and multiple organ failure.[2]
The most common cause is certain medications such as lamotrigine, carbamazepine, allopurinol, sulfonamide antibiotics, and nevirapine.[2] Other causes can include infections such as Mycoplasma pneumoniae and cytomegalovirus or the cause may remain unknown.[3][4] Risk factors include HIV/AIDS and systemic lupus erythematosus.[2] Diagnosis is based on a skin biopsy and involvement of more than 30% of the skin.[3] TEN is a type of severe cutaneous adverse reactions (SCARs), together with SJS, a SJS/TEN, and drug reaction with eosinophilia and systemic symptoms.[5] It is called SJS when less than 10% of the skin is involved and an intermediate form with 10 to 30% involvement.[3] Erythema multiforme (EM) is generally considered a separate condition.[6]
Treatment typically takes place in hospital such as in a burn unit or intensive care unit.[3][7] Efforts include stopping the cause, pain medication, and antihistamines.[3][4] Antibiotics, intravenous immunoglobulins, and corticosteroids may also be used.[3][4] Treatments do not typically change the course of the underlying disease.[3] Together with SJS it affects 1 to 2 persons per million per year.[2] It is more common in females than males.[3] Typical onset is over the age of 40.[3] Skin usually regrows over two to three weeks; however, recovery can take months and most are left with chronic problems.[3][4]
## Contents
* 1 Signs and symptoms
* 1.1 Prodrome
* 1.2 Skin findings
* 1.3 Mucosal findings
* 1.4 Complications
* 2 Cause
* 2.1 HIV
* 2.2 Genetics
* 3 Pathogenesis
* 4 Diagnosis
* 4.1 Histology
* 4.2 Differential diagnosis
* 5 Treatment
* 6 Prognosis
* 6.1 Severity score
* 6.1.1 Score
* 7 References
* 8 External links
## Signs and symptoms[edit]
### Prodrome[edit]
TEN ultimately results in extensive skin involvement with redness, necrosis, and detachment of the top (epidermal) layer of the skin and mucosa. Before these severe findings develop, people often have a flu-like prodrome, with a cough, runny nose, fever, decreased appetite and malaise. A history of drug exposure exists on average 14 days (ranging from 1–4 weeks) prior to the onset of symptoms, but may result as early as 48 hours if it is a reexposure.[8]
### Skin findings[edit]
Initial skin findings include red-purple, dusky, flat spots known as macules that start on the trunk and spread out from there. These skin lesions then transform into large blisters. The affected skin can then become necrotic or sag from the body and peel off in great swaths.[7]
* Toxic epidermal necrolysis on legs
* The emerging blisters on day 4 of an instance of TENs
* The back of a TENs patient on day 10, at the peak of the condition
### Mucosal findings[edit]
Nearly all people with TEN have oral, eye and genital involvement as well. Painful crusts and erosions may develop on any mucosal surface.[9] The mouth becomes blistered and eroded, making eating difficult and sometimes necessitating feeding through a nasogastric tube through the nose or a gastric tube directly into the stomach. The eyes can become swollen, crusted, and ulcerated, leading to potential blindness. The most common problem with the eyes is severe conjunctivitis.[10]
### Complications[edit]
Those who survive the acute phase of TEN often suffer long-term complications affecting the skin and eyes. Skin manifestations can include scarring, eruptive melanocytic nevi, vulvovaginal stenosis, and dyspareunia. The epithelium of the trachea, bronchi, or gastrointestinal tract may be involved in SJS and TEN.[11] Ocular symptoms are the most common complication in TEN, experienced by 20–79% of those with TEN, even by those who do not experience immediate ocular manifestations. These can include dry eyes, photophobia, symblepharon, corneal scarring or xerosis, subconjunctival fibrosis, trichiasis, decreased visual acuity, and blindness.[12]
## Cause[edit]
Drug reactions have been reported to cause 80–95% of TEN cases.[6]
The drugs most often implicated in TEN are:
* antibiotics
* sulfonamides (sulfamethoxazole, sulfadiazine, sulfapyridine)
* beta-lactams (cephalosporins, penicillins, carbapenems)
* nonsteroidal anti-inflammatory drugs
* allopurinol
* antimetabolites (methotrexate)
* antiretroviral drugs (nevirapine)
* corticosteroids
* anxiolytics (chlormezanone)
* anticonvulsants (phenobarbital, phenytoin, carbamazepine, lamotrigine, and valproic acid).[13][11]
TEN has also been reported to result from infection with Mycoplasma pneumoniae or dengue virus. Contrast agents used in imaging studies as well as transplantation of bone marrow or organs have also been linked to TEN development.[13][6]
### HIV[edit]
HIV-positive individuals have 1000 times the risk of developing SJS/TEN compared to the general population. The reason for this increased risk is not clear.[7]
### Genetics[edit]
Certain genetic factors are associated with increased risk of TEN. For example, certain HLA-types such as, HLA-B*1502,[14] HLA-A*3101,[15]HLA-B*5801,[16] and HLA‐B*57:01[17] have been seen to be linked with TEN development when exposed to specific drugs.
## Pathogenesis[edit]
The immune system's role in the precise pathogenesis of TEN remains unclear. It appears that a certain type of immune cell (cytotoxic CD8+ T cell) is primarily responsible for keratinocyte death and subsequent skin detachment. Keratinocytes are the cells found lower in the epidermis and specialize in holding the surrounding skin cells together. It is theorized that CD8+ immune cells become overactive by stimulation from drugs or drug metabolites. CD8+ T cells then mediate keratinocyte cell death through release of a number of molecules, including perforin, granzyme B, and granulysin. Other agents, including tumor necrosis factor alpha and fas ligand, also appear to be involved in TEN pathogenesis.[6]
## Diagnosis[edit]
The diagnosis of TEN is based on both clinical and histologic findings. Early TEN can resemble non-specific drug reactions, so clinicians should maintain a high index of suspicion for TEN. The presence of oral, ocular, and/or genital mucositis is helpful diagnostically, as these findings are present in nearly all patients with TEN. The Nikolsky sign (a separation of the papillary dermis from the basal layer upon gentle lateral pressure) and the Asboe-Hansen sign (a lateral extension of bullae with pressure) are also helpful diagnostic signs found in patients with TEN.[7]
Given the significant morbidity and mortality from TEN, as well as improvement in outcome from prompt treatment, there is significant interest in the discovery of serum biomarkers for early diagnosis of TEN. Serum granulysin and serum high-mobility group protein B1 (HMGB1) are among a few of the markers being investigated which have shown promise in early research.[7]
### Histology[edit]
Definitive diagnosis of TEN often requires biopsy confirmation. Histologically, early TEN shows scattered necrotic keratinocytes. In more advanced TEN, full thickness epidermal necrosis is visualized, with a subepidermal split, and scant inflammatory infiltrate in the papillary dermis. Epidermal necrosis found on histology is a sensitive but nonspecific finding for TEN.[7]
* Confluent Epidermal Necrosis, low mag
* Confluent Epidermal Necrosis, high mag
### Differential diagnosis[edit]
* Staphylococcal scalded skin syndrome
* Drug-induced linear immunoglobulin A dermatosis
* Acute graft versus host disease
* Acute generalized exanthematous pustulosis
* Erythroderma
* Drug reaction with eosinophilia and systemic symptoms aka DRESS
* A generalized morbilliform eruption[18]
## Treatment[edit]
The primary treatment of TEN is discontinuation of the causative factor(s), usually an offending drug, early referral and management in burn units or intensive care units, supportive management, and nutritional support.[7]
Current literature does not convincingly support use of any adjuvant systemic therapy. Initial interest in Intravenous immunoglobulin (IVIG) came from research showing that IVIG could inhibit Fas-FasL mediated keratinocyte apoptosis in vitro.[19] Unfortunately, research studies reveal conflicting support for use of IVIG in treatment of TEN.[20] Ability to draw more generalized conclusions from research to date has been limited by lack of controlled trials, and inconsistency in study design in terms of disease severity, IVIG dose, and timing of IVIG administration.[7] Larger, high quality trials are needed to assess the actual benefit of IVIG in TEN.
Numerous other adjuvant therapies have been tried in TEN including, corticosteroids, ciclosporin, cyclophosphamide, plasmapheresis, pentoxifylline, acetylcysteine, ulinastatin, infliximab, and granulocyte colony-stimulating factors (if TEN associated-leukopenia exists). There is mixed evidence for use of corticosteroids and scant evidence for the other therapies.[7] A meta-analysis from 2002 concluded that there is no reliable evidence for the treatment of TEN.[21] Thalidomide did not show any benefit and was associated with increased mortality compared with placebo.[21]
## Prognosis[edit]
The mortality for toxic epidermal necrolysis is 25–30%.[7] People with SJS or TEN caused by a medication have a better prognosis the earlier the causative medication is withdrawn.[11] Loss of the skin leaves patients vulnerable to infections from fungi and bacteria, and can result in sepsis, the leading cause of death in the disease.[13] Death is caused either by infection or by respiratory distress which is either due to pneumonia or damage to the linings of the airway. Microscopic analysis of tissue (especially the degree of dermal mononuclear inflammation and the degree of inflammation in general) can play a role in determining the prognosis of individual cases.[22]
### Severity score[edit]
The "Severity of Illness Score for Toxic Epidermal Necrolysis" (SCORTEN) is a scoring system developed to assess the severity of TEN and predict mortality in patients with acute TEN.[23]
One point is given for each of the following factors:[12]
* age >40
* heart rate >120 beats/minute
* carrying diagnosis of cancer
* separation of epidermis on more than ten percent of body surface area (BSA) on day 1.
* Blood Urea Nitrogen >28 mg/dL
* Glucose >252 mg/dL (14 mmol/L)
* Bicarbonate <20mEq/L
#### Score[edit]
* 0–1: 3.2% mortality
* 2: 12.2% mortality
* 3: 35.3% mortality
* 4: 58.3% mortality
* ≥5: 90% mortality
Of note, this scoring system is most valuable when used on the first and third day of hospitalization, and it may underestimate mortality in patients with respiratory symptoms.[12]
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ a b c d e f g h i j k l m n "Stevens-Johnson syndrome/toxic epidermal necrolysis". Genetics Home Reference. July 2015. Archived from the original on 27 April 2017. Retrieved 26 April 2017.
3. ^ a b c d e f g h i j k l m n o "Orphanet: Toxic epidermal necrolysis". Orphanet. November 2008. Archived from the original on 27 April 2017. Retrieved 26 April 2017.
4. ^ a b c d "Stevens-Johnson syndrome". GARD. Archived from the original on 28 August 2016. Retrieved 26 August 2016.
5. ^ Adler NR, Aung AK, Ergen EN, Trubiano J, Goh MS, Phillips EJ (2017). "Recent advances in the understanding of severe cutaneous adverse reactions". The British Journal of Dermatology. 177 (5): 1234–1247. doi:10.1111/bjd.15423. PMC 5582023. PMID 28256714.
6. ^ a b c d Schwartz, RA; McDonough, PH; Lee, BW (August 2013). "Toxic epidermal necrolysis: Part I. Introduction, history, classification, clinical features, systemic manifestations, etiology, and immunopathogenesis". Journal of the American Academy of Dermatology. 69 (2): 173.e1–13, quiz 185–6. doi:10.1016/j.jaad.2013.05.003. PMID 23866878.
7. ^ a b c d e f g h i j Schwartz, RA; McDonough, PH; Lee, BW (August 2013). "Toxic epidermal necrolysis: Part II. Prognosis, sequelae, diagnosis, differential diagnosis, prevention, and treatment". Journal of the American Academy of Dermatology. 69 (2): 187.e1–16, quiz 203–4. doi:10.1016/j.jaad.2013.05.002. PMID 23866879.
8. ^ Jordan, MH; Lewis, MS; Jeng, JG; Rees, JM (1991). "Treatment of toxic epidermal necrolysis by burn units: another market or another threat?". The Journal of Burn Care & Rehabilitation. 12 (6): 579–81. doi:10.1097/00004630-199111000-00015. PMID 1779014.
9. ^ Roujeau, JC; Stern, RS (10 November 1994). "Severe adverse cutaneous reactions to drugs". The New England Journal of Medicine. 331 (19): 1272–85. doi:10.1056/nejm199411103311906. PMID 7794310.
10. ^ Morales, ME; Purdue, GF; Verity, SM; Arnoldo, BD; Blomquist, PH (October 2010). "Ophthalmic Manifestations of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis and Relation to SCORTEN". American Journal of Ophthalmology. 150 (4): 505–510.e1. doi:10.1016/j.ajo.2010.04.026. PMID 20619392.
11. ^ a b c Maverakis, Emanual; Wang, Elizabeth A.; Shinkai, Kanade; Mahasirimongkol, Surakameth; Margolis, David J.; Avigan, Mark; Chung, Wen-Hung; Goldman, Jennifer; Grenade, Lois La (2017-06-01). "Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Standard Reporting and Evaluation Guidelines: Results of a National Institutes of Health Working Group" (PDF). JAMA Dermatology. 153 (6): 587–592. doi:10.1001/jamadermatol.2017.0160. ISSN 2168-6068. PMID 28296986. S2CID 205110875.
12. ^ a b c DeMers, G; Meurer, WJ; Shih, R; Rosenbaum, S; Vilke, GM (December 2012). "Tissue plasminogen activator and stroke: review of the literature for the clinician". The Journal of Emergency Medicine. 43 (6): 1149–54. doi:10.1016/j.jemermed.2012.05.005. PMID 22818644.
13. ^ a b c Garra, GP (2007). "Toxic Epidermal Necrolysis Archived 2007-12-27 at the Wayback Machine". Emedicine.com. Retrieved on December 13, 2007.
14. ^ Hung, SI; Chung, WH; Jee, SH; Chen, WC; Chang, YT; Lee, WR; Hu, SL; Wu, MT; Chen, GS; Wong, TW; Hsiao, PF; Chen, WH; Shih, HY; Fang, WH; Wei, CY; Lou, YH; Huang, YL; Lin, JJ; Chen, YT (April 2006). "Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions". Pharmacogenetics and Genomics. 16 (4): 297–306. doi:10.1097/01.fpc.0000199500.46842.4a. PMID 16538176. S2CID 45667604.
15. ^ McCormack, M; Alfirevic, A; Bourgeois, S; Farrell, JJ; Kasperavičiūtė, D; Carrington, M; Sills, GJ; Marson, T; Jia, X; de Bakker, PI; Chinthapalli, K; Molokhia, M; Johnson, MR; O'Connor, GD; Chaila, E; Alhusaini, S; Shianna, KV; Radtke, RA; Heinzen, EL; Walley, N; Pandolfo, M; Pichler, W; Park, BK; Depondt, C; Sisodiya, SM; Goldstein, DB; Deloukas, P; Delanty, N; Cavalleri, GL; Pirmohamed, M (24 March 2011). "HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans". The New England Journal of Medicine. 364 (12): 1134–43. doi:10.1056/nejmoa1013297. PMC 3113609. PMID 21428769.
16. ^ Tohkin, M; Kaniwa, N; Saito, Y; Sugiyama, E; Kurose, K; Nishikawa, J; Hasegawa, R; Aihara, M; Matsunaga, K; Abe, M; Furuya, H; Takahashi, Y; Ikeda, H; Muramatsu, M; Ueta, M; Sotozono, C; Kinoshita, S; Ikezawa, Z; Japan Pharmacogenomics Data Science, Consortium (February 2013). "A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients". The Pharmacogenomics Journal. 13 (1): 60–9. doi:10.1038/tpj.2011.41. PMID 21912425.
17. ^ Alfirevic, Ana; Pirmohamed, Munir; Marinovic, Branka; Harcourt-Smith, Linda; Jorgensen, Andrea L; Cooper, Tess E (17 July 2019). "Genetic testing for prevention of severe drug-induced skin rash". Cochrane Database of Systematic Reviews. 7: CD010891. doi:10.1002/14651858.CD010891.pub2. PMC 6636675. PMID 31314143.
18. ^ Schwartz, RA; McDonough, PH; Lee, BW (Aug 2013). "Toxic epidermal necrolysis: Part II. Prognosis, sequelae, diagnosis, differential diagnosis, prevention, and treatment". Journal of the American Academy of Dermatology. 69 (2): 187.e1–16, quiz 203–4. doi:10.1016/j.jaad.2013.05.002. PMID 23866879.
19. ^ Zajicek, R; Pintar, D; Broz, L; Suca, H; Königova, R (May 2012). "Toxic epidermal necrolysis and Stevens-Johnson syndrome at the Prague Burn Centre 1998-2008". Journal of the European Academy of Dermatology and Venereology : JEADV. 26 (5): 639–43. doi:10.1111/j.1468-3083.2011.04143.x. PMID 21668825. S2CID 25253929.
20. ^ Rajaratnam R, Mann C, Balasubramaniam P, et al. (December 2010). "Toxic epidermal necrolysis: retrospective analysis of 21 consecutive cases managed at a tertiary centre". Clin. Exp. Dermatol. 35 (8): 853–62. doi:10.1111/j.1365-2230.2010.03826.x. PMID 20456393. S2CID 1477097.
21. ^ a b Majumdar, Samit; Mockenhaupt, Maja; Roujeau, Jean-Claude; Townshend, Askari P (2002-10-21). "Interventions for toxic epidermal necrolysis". Cochrane Database of Systematic Reviews (4): CD001435. doi:10.1002/14651858.CD001435. ISSN 1465-1858. PMID 12519556.
22. ^ Quinn AM; Brown, K; Bonish, BK; Curry, J; Gordon, KB; Sinacore, J; Gamelli, R; Nickoloff, BJ; et al. (2005). "Uncovering histological criteria with prognostic significance in toxic epidermal necrolysis". Arch Dermatol. 141 (6): 683–7. doi:10.1001/archderm.141.6.683. PMID 15967913.
23. ^ Schwartz, RA; McDonough, PH; Lee, BW (August 2013). "Toxic epidermal necrolysis: Part II. Prognosis, sequelae, diagnosis, differential diagnosis, prevention, and treatment". Journal of the American Academy of Dermatology. 69 (2): 187.e1–16, quiz 203–4. doi:10.1016/j.jaad.2013.05.002. PMID 23866879.
## External links[edit]
Classification
D
* ICD-10: L51.2
* ICD-9-CM: 695.15
* OMIM: 608579
* MeSH: D004816
* DiseasesDB: 4450
External resources
* eMedicine: emerg/599 med/2291 derm/405
* Patient UK: Toxic epidermal necrolysis
* 18-203e. at Merck Manual of Diagnosis and Therapy Home Edition
* DermNetNZ
* v
* t
* e
Urticaria and erythema
Urticaria
(acute/chronic)
Allergic urticaria
* Urticarial allergic eruption
Physical urticaria
* Cold urticaria
* Familial
* Primary cold contact urticaria
* Secondary cold contact urticaria
* Reflex cold urticaria
* Heat urticaria
* Localized heat contact urticaria
* Solar urticaria
* Dermatographic urticaria
* Vibratory angioedema
* Pressure urticaria
* Cholinergic urticaria
* Aquagenic urticaria
Other urticaria
* Acquired C1 esterase inhibitor deficiency
* Adrenergic urticaria
* Exercise urticaria
* Galvanic urticaria
* Schnitzler syndrome
* Urticaria-like follicular mucinosis
Angioedema
* Episodic angioedema with eosinophilia
* Hereditary angioedema
Erythema
Erythema multiforme/
drug eruption
* Erythema multiforme minor
* Erythema multiforme major
* Stevens–Johnson syndrome, Toxic epidermal necrolysis
* panniculitis (Erythema nodosum)
* Acute generalized exanthematous pustulosis
Figurate erythema
* Erythema annulare centrifugum
* Erythema marginatum
* Erythema migrans
* Erythema gyratum repens
Other erythema
* Necrolytic migratory erythema
* Erythema toxicum
* Erythroderma
* Palmar erythema
* Generalized erythema
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Toxic epidermal necrolysis
|
c0014518
| 27,122 |
wikipedia
|
https://en.wikipedia.org/wiki/Toxic_epidermal_necrolysis
| 2021-01-18T19:09:17 |
{"gard": ["7743"], "mesh": ["D013262"], "umls": ["C0014518"], "icd-9": ["695.15"], "icd-10": ["L51.2"], "orphanet": ["95455"], "wikidata": ["Q1878682"]}
|
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 33 (MC1DN33) is caused by homozygous or compound heterozygous mutation in the NDUFA6 gene (602138) on chromosome 22q13.
Clinical Features
Alston et al. (2018) reported 4 unrelated children with mitochondrial complex I deficiency. The patients had onset of delayed development and/or neurologic deterioration in the first weeks or years of life. Two patients died in infancy; the other 2 patients were unable to stand, walk, or speak, and had optic atrophy.
Molecular Genetics
In 4 unrelated children with mitochondrial complex I deficiency nuclear type 33, Alston et al. (2018) identified homozygous or compound heterozygous mutations in the NDUFA6 gene (602138.0001-602138.0006). The patients were ascertained through GeneMatcher, and the mutations, which were found by targeted next-generation sequencing, whole-exome sequencing, or whole-genome sequencing, segregated with the disorder in the families. There were 3 frameshift mutations, 1 nonsense mutation, 1 putative interruption of the methionine initiation codon, and 1 missense mutation.
INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth retardation HEAD & NECK Eyes \- Optic atrophy (in some patients) RESPIRATORY \- Respiratory insufficiency ABDOMEN Gastrointestinal \- Dysphagia \- Tube feeding MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Encephalopathy \- Global developmental delay \- Neurologic deterioration \- Inability to stand \- Poor speech \- Inability to speak \- Spasticity \- Enlarged ventricles \- Cerebellar hypoplasia \- White matter abnormalities (in some patients) \- Cystic degeneration of the white matter (in some patients) METABOLIC FEATURES \- Metabolic acidosis \- Hypoglycemia LABORATORY ABNORMALITIES \- Increased serum and CSF lactate \- Hyperammonemia \- Mitochondrial complex I deficiency in various tissues MISCELLANEOUS \- Onset in the first days, months, or years \- Symptoms may be aggravated by concurrent infection \- Early death may occur MOLECULAR BASIS \- Caused by mutation in the NADH-ubiquinone oxidoreductase subunit A6 gene (NDUFA6, 602138.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
|
c2936907
| 27,123 |
omim
|
https://www.omim.org/entry/618253
| 2019-09-22T15:42:49 |
{"mesh": ["C537475"], "omim": ["618253"], "orphanet": ["2609"]}
|
## Clinical Features
Kawashima and Tsuji (1987) reported the cases of a mother and son with microcephaly, mental retardation, and characteristic facies. The subjects were also deaf and had low-set, cup-shaped ears. The facial characteristics were asymmetry, prominent glabella, protruding lower lip, and micrognathia. Childhood photographs demonstrated microcephaly in the mother who became normocephalic by age 26 years.
Inheritance
Kawashima and Tsuji (1987) suggested autosomal dominant inheritance of this disorder.
Head \- Microcephaly Inheritance \- Autosomal dominant Neuro \- Mental retardation Facies \- Facial asymmetry \- Prominent glabella \- Protruding lower lip \- Micrognathia Ears \- Deafness \- Low-set, cup-shaped ears ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
MICROCEPHALY-DEAFNESS SYNDROME
|
c0796062
| 27,124 |
omim
|
https://www.omim.org/entry/156620
| 2019-09-22T16:38:13 |
{"mesh": ["C537326"], "omim": ["156620"], "orphanet": ["2533"]}
|
A number sign (#) is used with this entry because this form of neonatal severe encephalopathy is caused by mutations in the MECP2 gene (300005).
Description
The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Since then, additional reports have confirmed a severe phenotype in males with RTT-associated MECP2 mutations (Moog et al., 2003; Villard, 2007).
Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes: see also nonspecific X-linked mental retardation, X-linked mental retardation with spasticity (300055), and X-linked mental retardation due to increased dosage of the MECP2 gene (300260).
Clinical Features
Schanen et al. (1998) reported 2 males with severe encephalopathy born to putative mutant gene carriers in families with recurrent RTT. One of them was the son of the obligate carrier in a family reported by Schanen et al. (1997). The infant was judged to be normal at birth, was sent home, and suffered an apneic event at 5 days of age. He had phenotypic features that were associated with Rett syndrome, including acquired microcephaly, profound developmental delay, hypotonia, seizures, respiratory irregularities, constipation, and growth retardation.
Hoffbuhr et al. (2001) reported 2 brothers with severe neonatal encephalopathy, significant developmental delay, and microcephaly associated with a hemizygous deletion in the MECP2 gene (300005.0034). They died at ages 21 and 18 months, respectively. The unaffected mother was a carrier with skewed X inactivation.
Geerdink et al. (2002) reported a male infant, the brother of a girl with Rett syndrome, who had severe neonatal encephalopathy, respiratory insufficiency with apnea, central hypoventilation, and poor feeding. He had axial hypotonia with hyperextension and rigidity of the limbs. At age 3 months, he developed seizures and stereotypic rubbing of his hand over his face. He also had gastroesophageal reflux. He died at age 13 months of respiratory failure. Postmortem examination showed bilateral polymicrogyria.
Zeev et al. (2002) reported an Israeli family in which a girl had classic Rett syndrome and her brother had severe neonatal encephalopathy.
Leuzzi et al. (2004) reported a 28-month-old boy with neonatal encephalopathy. After a normal pregnancy and cesarean section, the patient was markedly hypotonic with weak suction and vomiting. He showed chaotic ocular movements, masticatory automatisms, and brief seizure-like episodes. Brain MRI was normal. Examination at age 10 months showed microcephaly, severe developmental delay, axial hypotonia, limb rigidity, hyperreflexia, lack of purposeful hand movements, and poor eye contact. In addition, he had paroxysmal myoclonic movements of the upper limbs that were unresponsive to conventional antiepileptic drugs. Neurophysiologic investigations showed arrhythmic multifocal myoclonus that was of cortical origin, although not associated with cortical hyperexcitability. The findings were similar to those observed in patients with Rett syndrome and believed to result from reduced dendritic branching and circuitry derangement (Guerrini et al., 1998). Molecular analysis identified an MECP2 mutation (300005.0003). The patient's mother did not carry the mutation, suggesting germline mosaicism or a de novo mutation.
Kankirawatana et al. (2006) reported 4 unrelated boys with neonatal encephalopathy due to hemizygous MECP2 mutations. All had progressive microcephaly and respiratory insufficiency. Variable features included limb rigidity, axial hypotonia, and movement disorders. Three died by 27 months of age; 1 was alive at age 25 months. Two of the patients' mothers had had previous spontaneous abortions. The authors reviewed the clinical features of 11 similarly affected boys reported in the literature. Seven had sisters or female relatives with Rett syndrome. All the boys had a similar phenotype with neonatal encephalopathy, severe developmental delay, respiratory insufficiency, intractable seizures, abnormal muscle tone and movements, and usually early death.
Schule et al. (2008) reported a male infant with congenital encephalopathy due to a frameshift mutation in the MECP2 gene. He died at age 15 months from central respiratory failure. Neuropathologic examination showed a small brain with disproportionate reduction of the frontal and temporal lobes. Synaptophysin (SYP; 313475) staining of synaptic vesicles was greatly decreased in the cerebellum and spinal cord. Pyramidal neurons from the frontal and temporal lobes showed significantly decreased dendritic arborization compared to controls, as determined by Sholl analysis.
Molecular Genetics
In a boy who died of congenital encephalopathy, Wan et al. (1999) identified a hemizygous 1-bp deletion in the MECP2 gene (806delG; 300005.0003). His sister and aunt, who both carried the mutation, had Rett syndrome. His carrier mother had motor coordination problems, mild learning disability, and skewed X inactivation.
Villard et al. (2000) reported a family in which a daughter had classic Rett syndrome and her 2 brothers died in infancy from severe encephalopathy. The affected girl and 1 brother tested had a mutation in the MECP2 gene (T158M; 300005.0007). The unaffected carrier mother had a completely biased pattern of X-chromosome inactivation that favored expression of the normal allele. One of the affected boys showed severe mental retardation and hypotonia soon after birth and died at age 11 months.
In a girl with Rett syndrome and her brother with lethal neonatal encephalopathy, Geerdink et al. (2002) identified a mutation in the MECP2 gene (300005.0032).
INHERITANCE \- X-linked recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Microcephaly, progressive RESPIRATORY \- Respiratory insufficiency \- Apnea \- Central hypoventilation ABDOMEN Gastrointestinal \- Poor feeding \- Gastroesophageal reflux NEUROLOGIC Central Nervous System \- Encephalopathy, severe, neonatal \- Developmental delay, severe \- Mental retardation, severe \- Seizures \- Axial hypotonia \- Hyperextension of the limbs \- Limb rigidity \- Hyperreflexia \- Dyskinetic movements \- Myoclonus \- EEG abnormalities \- Polymicrogyria (reported in 1 patient) Behavioral Psychiatric Manifestations \- Stereotypical movements MISCELLANEOUS \- Onset at birth \- Death usually within first 2 years of life \- MECP2 mutations are those found in females with Rett syndrome ( 312750 ) MOLECULAR BASIS \- Caused by mutation in the methyl-CpG-binding protein 2 gene (MECP2, 300005.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
c1968556
| 27,125 |
omim
|
https://www.omim.org/entry/300673
| 2019-09-22T16:19:49 |
{"mesh": ["C566878"], "omim": ["300673"], "orphanet": ["209370"], "synonyms": ["Severe congenital encephalopathy due to MECP2 mutation"]}
|
Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Rett syndrome
|
c0035372
| 27,126 |
gard
|
https://rarediseases.info.nih.gov/diseases/5696/rett-syndrome
| 2021-01-18T17:57:56 |
{"mesh": ["D015518"], "omim": ["312750"], "umls": ["C0035372"], "orphanet": ["778"], "synonyms": ["Autism, dementia, ataxia, and loss of purposeful hand use"]}
|
A number sign (#) is used with this entry because IRAK4 deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding interleukin-1 receptor-associated kinase-4 (IRAK4; 606883).
Description
IRAK4 deficiency is an autosomal recessive primary immunodeficiency that impairs Toll (see TLR4; 603030)/IL1R (see IL1R1; 147810) immunity, except for the TLR3 (603029)- and TLR4-interferon-alpha (IFNA; 147660)/beta (IFNB; 147640) pathways (Ku et al., 2007).
Clinical Features
Haraguchi et al. (1998) described a 3-year-old female with interleukin-12 (see IL12B, 161561) deficiency associated with recurrent episodes of pneumococcal pneumonia with sepsis and other infections in the absence of fevers. She was the product of an incestuous relationship. The patient's peripheral blood mononuclear cells (PBMCs) exhibited normal proliferative responses to antigens. Immune responses, including in vivo production of antibodies to diphtheria, tetanus, or pneumococcal antigens, were normal. Immunoglobulin levels and B-cell and T-cell phenotypes were also normal. In contrast, IL12 p70 heterodimer production was undetectable by using supernatants of the patient's stimulated PBMCs when compared with control cells treated similarly. Although present, IFNG (147570) was reduced. The addition of recombinant IFNG to control cells enhanced the production of IL12 up to 6-fold. In contrast, IL12 was undetectable in supernatants of the patient's cells in the presence of recombinant IFNG. The IL12 p40 subunit (IL12B) mRNA by using the patient's PBMCs after stimulation with Staphylococcus aureus or lipopolysaccharide was also undetectable by RT-PCR when compared with control cells. Production of IL2 (147680), IL6 (147620), tumor necrosis factor-alpha (191160), or IFNG of the patient's PBMCs after appropriate stimulation was observed. This patient was thought to have either a defect in the signaling pathways for the activation of IL12B gene expression or an abnormality in IL12B itself.
Picard et al. (2003) described 3 unrelated children, including the child originally reported by Haraguchi et al. (1998), with recurrent infections and poor inflammatory response in whom extracellular, pyogenic bacteria were the only microorganisms responsible for infection. Gram-positive Streptococcus pneumoniae and Staphylococcus aureus were the most frequently found and were the only pathogens identified in 2 patients. Infections began early in life but became less frequent with age, and the patients were well with no treatment at ages 6, 11, and 7 years. All known primary immunodeficiencies were excluded. In particular, the patients had normal serum antibody titers against protein and polysaccharide antigens, including those from S. pneumoniae. However, 1 of the 3 patients had been shown not to respond to lipopolysaccharide (LPS) or S. aureus (Haraguchi et al., 1998). None of the patients' monocytes responded to LPS; however, they responded normally to TNF-alpha (191160). The patients did not respond to IL1-beta (147720), IL18 (600953), or any of the TLR1-6 (see 601194) or TLR9 (605474) ligands, as assessed by activation of NF-kappa-B (see 164011) and p38-MAPK (600289) and induction of IL1-beta, IL6, IL12, TNF-alpha, and IFNG.
In a follow-up of the patients reported by Picard et al. (2003), Day et al. (2004) found that 2 continued to do well, but 1, an 8-year-old girl, was unable to sustain antibody responses to polysaccharide or protein antigens or to a neoantigen-bacteriophage. She continued to have recurring bacterial and fungal infections, eventually requiring intravenous immunoglobulin therapy. They recommended testing for IRAK4 deficiency in patients with recurrent bacterial and fungal infections without sustained antibody response to immunization.
Ku et al. (2007) tested TLR responses of whole blood and individual leukocyte subsets in 28 patients with IRAK4 deficiency and found that only the TLR3 agonist poly(I:C) could induce production of 11 non-IFN cytokines. The TLR4 agonist, LPS, could induce some responses in myeloid dendritic cells and monocyte-derived dendritic cells. Most patients suffered from invasive and often recurrent pneumococcal disease, but other infections, except for severe staphylococcal disease, were rare. Nearly half of the patients died. Death occurred only in patients 8 years old and younger, and invasive disease occurred only in those 14 years old and younger. Ku et al. (2007) concluded that IRAK4-dependent TLRs and IL1Rs are vital for childhood immunity to pyogenic bacteria, particularly S. pneumoniae, but they are not essential for protective immunity to most infections.
Hoarau et al. (2007) investigated a 14-year-old French boy of healthy, unrelated patients with IRAK4 deficiency characterized by recurrent infections, osteomyelitis, and cellulitis beginning at age 15 days. Apart from elevated C-reactive protein (CRP; 123260) and very low polymorphonuclear neutrophil (PMN) numbers, his immunologic status was normal. Hoarau et al. (2007) found that the patient was compound heterozygous for 2 mutations in the IRAK4 gene (see 606883.0006 and 606883.0007). Stimulation of the patient's PMNs with TLR agonists revealed the absence of IRAK1 (300283) phosphorylation and impaired PMN responses. However, responses to the TLR9 agonist CpG were normal, except for cytokine production. Impairment of TLR9 responses was observed after pretreatment with PI3K (see 601232) inhibitors. Hoarau et al. (2007) proposed that there may be an alternative TLR9 pathway leading to PI3K activation independently of the classical MYD88 (602170)-IRAK4 pathway. They suggested that this alternative pathway may play a role in control of infections by microorganisms other than pyogenic bacteria in patients with IRAK4 deficiency.
Molecular Genetics
Picard et al. (2003) found that all 3 patients with pyogenic bacterial infections were homozygous for a mutation in the IRAK4 gene (see 606883.0001-606883.0002) and that in each case the mutations were associated with complete deficiency for the kinase.
Pathogenesis
By studying responses to the TLR4 ligand, LPS, and to the bacterial chemoattractant, fMLP, in PMNs from 1 patient with IRAK4 deficiency and 3 patients with NEMO (300248) deficiency causing X-linked hyper-IgM immunodeficiency with ectodermal dysplasia (300291), Singh et al. (2009) demonstrated reduced or absent superoxide production after impaired priming and activation of the oligomeric neutrophil NADPH oxidase (NOX; see 300481). The response was particularly weak or absent in IRAK4-deficient PMNs. NEMO-deficient PMNs had a phenotype intermediate between IRAK4-deficient PMNs and normal PMNs. Decreased LPS- and fMLP-induced phosphorylation of p38 (MAPK14; 600289) was observed in both deficiencies. Singh et al. (2009) proposed that decreased activation of NOX may contribute to increased risk of infection in patients with IRAK4 deficiency or NEMO deficiency.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
IRAK4 DEFICIENCY
|
c1843256
| 27,127 |
omim
|
https://www.omim.org/entry/607676
| 2019-09-22T16:08:53 |
{"mesh": ["C564352"], "omim": ["607676"], "orphanet": ["70592"], "synonyms": ["Alternative titles", "IRAK4D"]}
|
"Idiopathic hypertension" redirects here. For the condition of raised blood pressure within the skull, see Idiopathic intracranial hypertension.
Essential hypertension
Other namesPrimary hypertension
SpecialtyCardiology
Essential hypertension (also called primary hypertension, or idiopathic hypertension) is the form of hypertension that by definition has no identifiable secondary cause.[1][2] It is the most common type affecting 85% of those with high blood pressure.[3][4] The remaining 15% is accounted for by various causes of secondary hypertension.[3] Primary hypertension tends to be familial and is likely to be the consequence of an interaction between environmental and genetic factors. Prevalence of essential hypertension increases with age, and individuals with relatively high blood pressure at younger ages are at increased risk for the subsequent development of hypertension. Hypertension can increase the risk of cerebral, cardiac, and renal events.[5]
## Contents
* 1 Classification
* 2 Risk factors
* 2.1 Genetic variation
* 2.2 Aging
* 2.3 Obesity
* 2.4 Salt
* 2.5 Alcohol
* 2.6 Renin
* 2.7 Diabetes
* 2.8 Smoking
* 2.9 Vitamin deficiency
* 2.10 Lack of exercise
* 3 Pathophysiology
* 4 Diagnosis
* 5 History
* 6 See also
* 7 References
* 8 External links
## Classification[edit]
The variation in pressure in the left ventricle (blue line) and the aorta (red line) over two cardiac cycles ("heart beats"), showing the definitions of systolic and diastolic pressure.
A recent classification recommends blood pressure criteria for defining normal blood pressure, prehypertension, hypertension (stages I and II), and isolated systolic hypertension, which is a common occurrence among the elderly. These readings are based on the average of seated blood pressure readings that were properly measured during 2 or more office visits. In individuals older than 50 years, hypertension is considered to be present when a person's blood pressure is consistently at least 140 mmHg systolic or 90 mmHg diastolic. Patients with blood pressures over 130/80 mmHg along with Type 1 or Type 2 diabetes, or kidney disease require further treatment.[6]
Classification Systolic pressure Diastolic pressure
mmHg kPa (kN/m2) mmHg kPa (kN/m2)
Normal 90–119 12–15.9 60–79 8.0–10.5
Prehypertension 120–139 16.1–18.5 81–89 10.8–11.9
Stage 1 140–159 18.7–21.2 90–99 12.0–13.2
Stage 2 ≥160 ≥21.3 ≥100 ≥13.3
Isolated systolic
hypertension ≥140 ≥18.7 <90 <12.0
Source: American Heart Association (2003).[6]
Resistant hypertension is defined as the failure to reduce blood pressure to the appropriate level after taking a three-drug regimen.[6] Guidelines for treating resistant hypertension have been published in the UK, and US.[7]
## Risk factors[edit]
Hypertension is one of the most common complex disorders. The etiology of hypertension differs widely amongst individuals within a large population.[8] And by definition, essential hypertension has no identifiable cause. However, several risk factors have been identified. Sympathetic Overload is also a probable underlying cause of essential hypertension. This is known because approximately one third of essential hypertension cases are resolved following a Pterygopalatine Ganglion Block or Sphenopalatine Ganglion (SPG) Block to turn off Sympathetic Overload. [1] Self-Administration of SPG Blocks (SASPGB) is probable the safest and most effective method of delivering SPG blocks.
### Genetic variation[edit]
* Having a personal family history of hypertension increases the likelihood that an individual develops it.[9]
* Essential hypertension is four times more common in black than white people, accelerates more rapidly and is often more severe with higher mortality in black patients.[9][10][11][12]
More than 50 genes have been examined in association studies with hypertension, and the number is constantly growing. One of these genes is the angiotensinogen (AGT) gene, studied extensively by Kim et al. They showed that increasing the number of AGT increases the blood pressure and hence this may cause hypertension.[8] In single variant tests, it has been shown that SNPs were enriched for variants associated with adiposity, type 2 diabetes, coronary heart disease and kidney function in previously published GWAS, providing evidence that genetic loci related to blood pressure contribute to cardiovascular outcomes.[13] Twins have been included in studies measuring ambulatory blood pressure; from these studies it has been suggested that there is a large genetic influence on essential hypertension.[8] Supporting data has emerged from animal studies as well as clinical studies in human populations. The majority of these studies support the concept that the inheritance is probably multifactorial or that a number of different genetic defects each has an elevated blood pressure as one of its phenotypic expressions. However, the genetic influence on hypertension is not fully understood at the moment. It is believed that linking hypertension-related phenotypes with specific variations of the genome may yield definitive evidence of heritability.[14] Another view is that hypertension can be caused by mutations in single genes, inherited on a Mendelian basis.[15]
### Aging[edit]
Hypertension can also be age-related, and if this is the case, it is likely to be multifactorial. One possible mechanism involves a reduction in vascular compliance due to the stiffening of the arteries. This can build up due to isolated systolic hypertension with a widened pulse pressure. A decrease in glomerular filtration rate is related to aging and this results in decreasing efficiency of sodium excretion. The developing of certain diseases such as renal microvascular disease and capillary rarefaction may relate to this decrease in efficiency of sodium excretion. There is experimental evidence that suggests that renal microvascular disease is an important mechanism for inducing salt-sensitive hypertension.[16]
### Obesity[edit]
Obesity can increase the risk of hypertension to fivefold as compared with normal weight, and up to two-thirds of hypertension cases can be attributed to excess weight.[17] More than 85% of cases occur in those with a Body mass index (BMI) greater than 25.[17] A definitive link between obesity and hypertension has been found using animal and clinical studies; from these it has been realized that many mechanisms are potential causes of obesity-induced hypertension. These mechanisms include the activation of the sympathetic nervous system as well as the activation of the renin–angiotensin–aldosterone system.[18]
### Salt[edit]
Another risk factor is salt (sodium) sensitivity which is an environmental factor that has received the greatest attention. Approximately one third of the essential hypertensive population is responsive to sodium intake.[19][20] When sodium intake exceeds the capacity of the body to excrete it through the kidneys, vascular volume expands secondary to movement of fluids into the intra-vascular compartment. This causes the arterial pressure to rise as the cardiac output increases. Local autoregulatory mechanisms counteract this by increasing vascular resistance to maintain normotension in local vascular beds. As arterial pressure increases in response to high sodium chloride intake, urinary sodium excretion increases and the excretion of salt is maintained at expense of increased vascular pressures.[9] The increased sodium ion concentration stimulates ADH and thirst mechanisms, leading to increased reabsorption of water in the kidneys, concentrated urine, and thirst with higher intake of water. Also, the water movement between cells and the interstitium plays a minor role compared to this.
### Alcohol[edit]
Excessive alcohol consumption will increase blood pressure over time. Alcohol also contains a high density of calories and may contribute to obesity.[21]
### Renin[edit]
Renin elevation is another risk factor. Renin is an enzyme secreted by the juxtaglomerular apparatus of the kidney and linked with aldosterone in a negative feedback loop. In consequence, some hypertensive patients have been defined as having low-renin and others as having essential hypertension. Low-renin hypertension is more common in African Americans than white Americans, and may explain why African Americans tend to respond better to diuretic therapy than drugs that interfere with the renin–angiotensin system.
High renin levels predispose to hypertension by causing sodium retention through the following mechanism: Increased renin → Increased angiotensin II → Increased vasoconstriction, thirst/ADH and aldosterone → Increased sodium reabsorption in the kidneys (DCT and CD) → Increased blood pressure.
### Diabetes[edit]
Hypertension can also be caused by Insulin resistance and/or hyperinsulinemia, which are components of syndrome X, or the metabolic syndrome. Insulin is a polypeptide hormone secreted by cells in the islets of Langerhans, which are contained throughout the pancreas. Its main purpose is to regulate the levels of glucose in the body antagonistically with glucagon through negative feedback loops. Insulin also exhibits vasodilatory properties. In normotensive individuals, insulin may stimulate sympathetic activity without elevating mean arterial pressure. However, in more extreme conditions such as that of the metabolic syndrome, the increased sympathetic neural activity may over-ride the vasodilatory effects of insulin.
Recent studies claim that obesity is a risk factor for hypertension because of activation of the renin–angiotensin system (RAS) in adipose tissue,[22][23] and also linked renin–angiotensin system with insulin resistance, and claims that any one can cause the other.[24]
### Smoking[edit]
Smoking does not directly cause high blood pressure. However it is a known risk factor for other serious cardiovascular disease.[21]
### Vitamin deficiency[edit]
It has been suggested that vitamin D deficiency is associated with cardiovascular risk factors.[25] It has been observed that individuals with a vitamin D deficiency have higher systolic and diastolic blood pressures than average. Vitamin D inhibits renin secretion and its activity, it therefore acts as a "negative endocrine regulator of the renin–angiotensin system". Hence, a deficiency in vitamin D leads to an increase in renin secretion. This is one possible mechanism of explaining the observed link between hypertension and vitamin D levels in the blood plasma.[26]
Also, some authorities claim that potassium might both prevent and treat hypertension.[27]
### Lack of exercise[edit]
Regular physical exercise reduces blood pressure. The UK National Health Service advises 150 minutes (2 hours and 30 minutes) of moderate-intensity aerobic activity per week to help prevent hypertension.[21]
## Pathophysiology[edit]
Main article: Pathophysiology of hypertension
A diagram explaining factors affecting arterial pressure
Cardiac output and peripheral resistance are the two determinants of arterial pressure and so blood pressure is normally dependent on the balance between cardiac output and peripheral resistance.[28] Cardiac output is determined by stroke volume and heart rate; stroke volume is related to myocardial contractility and to the size of the vascular compartment. Peripheral resistance is determined by functional and anatomic changes in small arteries and arterioles. The pathophysiology of essential hypertension is an area of research, and until now remains not well understood, but many theories have been proposed to explain this.
What is known is that cardiac output is raised early in the disease course, with total peripheral resistance (TPR) normal; over time cardiac output drops to normal levels but TPR is increased. Three theories have been proposed to explain this:
* An overactive Renin–angiotensin system leads to vasoconstriction and retention of sodium and water. The increase in blood volume leads to hypertension.
* An overactive sympathetic nervous system, leading to increased stress responses.
It is also known that hypertension is highly heritable and polygenic (caused by more than one gene) and a few candidate genes have been postulated in the etiology of this condition.[29][30][31] [32]
Essential hypertension can lead to impaired white matter of the brain, which is accompanied by specific cognitive impairment.[33]
## Diagnosis[edit]
For most patients, health care providers diagnose high blood pressure when blood pressure readings are consistently 140/90 mmHg or above. A blood pressure test can be done in a health care provider's office or clinic. To track blood pressure readings over a period of time, the health care provider may ask the patient to come into the office on different days and at different times. The health care provider also may ask the patient to check readings at home or at other locations that have blood pressure equipment and to keep a written log of results. The health care provider usually takes 2–3 readings at several medical appointments to diagnose high blood pressure.[34] Using the results of the blood pressure test, the health care provider will diagnose prehypertension or high blood pressure if:
* For an adult, systolic or diastolic readings are consistently higher than 120/80 mmHg.
* A child's blood pressure numbers are outside average numbers for children of the same age, gender, and height.[34]
Once the health care provider determines the severity, he or she can order additional tests to determine if the blood pressure is due to other conditions or medicines or if there is primary high blood pressure. Health care providers can use this information to develop a treatment plan.[34]
## History[edit]
Prior to the work of Australian cardiovascular physiologist Paul Korner, in the 1940s, little was known about essential hypertension.[35]
## See also[edit]
* DASH diet
## References[edit]
1. ^ "Essential hypertension - Symptoms, diagnosis and treatment | BMJ Best Practice". bestpractice.bmj.com. Retrieved 30 July 2020.
2. ^ Hall, John (2011). Guyton and Hall textbook of medical physiology (Twelfth ed.). p. 225. ISBN 9781416045748.
3. ^ a b Ferri, Fred (2019). Ferri's clinical advisor 2019 : 5 books in 1. p. 729. ISBN 9780323530422.
4. ^ "Hypertension: eMedicine Nephrology". Retrieved 2009-06-05.
5. ^ Messerli FH, Williams B, Ritz E (August 2007). "Essential hypertension". Lancet. 370 (9587): 591–603. doi:10.1016/S0140-6736(07)61299-9. PMID 17707755. S2CID 26414121.
6. ^ a b c Chobanian AV, Bakris GL, Black HR, Cushman WC, Green LA, Izzo JL, et al. (December 2003). "Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure". Hypertension. 42 (6): 1206–52. doi:10.1161/01.HYP.0000107251.49515.c2. PMID 14656957.
7. ^ Calhoun DA, Jones D, Textor S, Goff DC, Murphy TP, Toto RD, et al. (June 2008). "Resistant hypertension: diagnosis, evaluation, and treatment. A scientific statement from the American Heart Association Professional Education Committee of the Council for High Blood Pressure Research". Hypertension. 51 (6): 1403–19. doi:10.1161/HYPERTENSIONAHA.108.189141. PMID 18391085.
8. ^ a b c Dickson ME, Sigmund CD (July 2006). "Genetic basis of hypertension: revisiting angiotensinogen". Hypertension. 48 (1): 14–20. doi:10.1161/01.HYP.0000227932.13687.60. PMID 16754793.
9. ^ a b c Loscalzo J, Fauci AS, Braunwald E, Kasper DL, Hauser SL, Longo DL (2008). Harrison's principles of internal medicine. McGraw-Hill Medical. ISBN 978-0-07-147691-1.
10. ^ Haffner SM, Lehto S, Rönnemaa T, Pyörälä K, Laakso M (July 1998). "Mortality from coronary heart disease in subjects with type 2 diabetes and in nondiabetic subjects with and without prior myocardial infarction". The New England Journal of Medicine. 339 (4): 229–34. doi:10.1056/NEJM199807233390404. PMID 9673301.
11. ^ Lindhorst J, Alexander N, Blignaut J, Rayner B (2007). "Differences in hypertension between blacks and whites: an overview" (PDF). Cardiovascular Journal of Africa. 18 (4): 241–7. PMC 4170224. PMID 17940670.[permanent dead link]
12. ^ Burt VL, Whelton P, Roccella EJ, Brown C, Cutler JA, Higgins M, et al. (March 1995). "Prevalence of hypertension in the US adult population. Results from the Third National Health and Nutrition Examination Survey, 1988-1991". Hypertension. 25 (3): 305–13. doi:10.1161/01.HYP.25.3.305. PMID 7875754. Archived from the original on 2012-12-05.
13. ^ Kato N, Loh M, Takeuchi F, Verweij N, Wang X, Zhang W, et al. (November 2015). "Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation". Nature Genetics. 47 (11): 1282–1293. doi:10.1038/ng.3405. PMC 4719169. PMID 26390057.
14. ^ Kotchen TA, Kotchen JM, Grim CE, George V, Kaldunski ML, Cowley AW, et al. (July 2000). "Genetic determinants of hypertension: identification of candidate phenotypes". Hypertension. 36 (1): 7–13. CiteSeerX 10.1.1.560.4838. doi:10.1161/01.HYP.36.1.7. PMID 10904005. Archived from the original on 2012-07-08.
15. ^ Williams B, et al. (British Hypertension Society) (2006). Sutters M (ed.). "Hypertension Etiology & Classification – Secondary Hypertension". Armenian Medical Network. Retrieved 2007-12-02.
16. ^ Kosugi T, Nakagawa T, Kamath D, Johnson RJ (February 2009). "Uric acid and hypertension: an age-related relationship?". Journal of Human Hypertension. 23 (2): 75–6. doi:10.1038/jhh.2008.110. PMID 18754017. S2CID 20887832.
17. ^ a b Haslam DW, James WP (October 2005). "Obesity". Lancet. 366 (9492): 1197–209. doi:10.1016/S0140-6736(05)67483-1. PMID 16198769. S2CID 208791491.
18. ^ Rahmouni K, Correia ML, Haynes WG, Mark AL (January 2005). "Obesity-associated hypertension: new insights into mechanisms". Hypertension. 45 (1): 9–14. doi:10.1161/01.HYP.0000151325.83008.b4. PMID 15583075.
19. ^ http://www.jstage.jst.go.jp/article/jphs/100/5/370/_pdf[permanent dead link] A Missing Link Between a High Salt Intake and Blood Pressure Increase: Makoto Katori and Masataka Majima, Department of Pharmacology, Kitasato University School of Medicine, Kitasato, Sagamihara, Kanagawa, Japan February 8, 2006
20. ^ http://hyper.ahajournals.org/content/27/3/481.full Salt Sensitivity of Blood Pressure in Humans Myron H. Weinberger Indiana University School of Medicine, Hypertension 1996 doi:10.1161/01.HYP.27.3.481
21. ^ a b c "Prevention". nhs.uk. 2017-10-23. Retrieved 11 April 2018.
22. ^ Segura J, Ruilope LM (October 2007). "Obesity, essential hypertension and renin-angiotensin system". Public Health Nutrition. 10 (10A): 1151–5. doi:10.1017/S136898000700064X. PMID 17903324.
23. ^ Hasegawa H, Komuro I (April 2009). "[The progress of the study of RAAS]". Nihon Rinsho. Japanese Journal of Clinical Medicine (in Japanese). 67 (4): 655–61. PMID 19348224.
24. ^ Saitoh S (April 2009). "[Insulin resistance and renin-angiotensin-aldosterone system]". Nihon Rinsho. Japanese Journal of Clinical Medicine (in Japanese). 67 (4): 729–34. PMID 19348235.
25. ^ Lee JH, O'Keefe JH, Bell D, Hensrud DD, Holick MF (December 2008). "Vitamin D deficiency an important, common, and easily treatable cardiovascular risk factor?". Journal of the American College of Cardiology. 52 (24): 1949–56. doi:10.1016/j.jacc.2008.08.050. PMID 19055985.
26. ^ Forman JP, Giovannucci E, Holmes MD, Bischoff-Ferrari HA, Tworoger SS, Willett WC, Curhan GC (May 2007). "Plasma 25-hydroxyvitamin D levels and risk of incident hypertension". Hypertension. 49 (5): 1063–9. doi:10.1161/HYPERTENSIONAHA.107.087288. PMID 17372031.
27. ^ Eva May Nunnelley Hamilton, M.S., Eleanor Noss Whitney, R.D., Frances Sienkiewicz Sizer, M.S., R.D. (1991). Fifth Edition Annotated Instructor's Edition Nutrition Concepts & Controversies. West Publishing Company. ISBN 978-0-314-81092-2. OCLC 22451334.CS1 maint: multiple names: authors list (link)
28. ^ Klabunde, Richard E. (2007). "Cardiovascular Physiology Concepts – Mean Arterial Pressure". Retrieved 2008-09-29.
29. ^ Sagnella GA, Swift PA (June 2006). "The renal epithelial sodium channel: genetic heterogeneity and implications for the treatment of high blood pressure". Current Pharmaceutical Design. 12 (18): 2221–34. doi:10.2174/138161206777585157. PMID 16787251.
30. ^ Johnson JA, Turner ST (June 2005). "Hypertension pharmacogenomics: current status and future directions". Current Opinion in Molecular Therapeutics. 7 (3): 218–25. PMID 15977418.
31. ^ Izawa H, Yamada Y, Okada T, Tanaka M, Hirayama H, Yokota M (May 2003). "Prediction of genetic risk for hypertension". Hypertension. 41 (5): 1035–40. doi:10.1161/01.HYP.0000065618.56368.24. PMID 12654703.
32. ^ Bello Inumidun Taofik (2017). diagnosis impact of hypertension
33. ^ Pervichko E, Ostroumova T, Darevskaya M, Perepelova E, Perepelov V, Vartanov A, et al. (2018). "A psychophysiological study ofcognitive disorders in naivemiddle-age patients withuncomplicated essential hypertensionand white matter lesions". European Psychiatry. 48S: 114.
34. ^ a b c "Diagnosis of High Blood Pressure - NHLBI, NIH". National Institutes of Health. This article incorporates text from this source, which is in the public domain.
35. ^ "World authority on blood pressure: Paul Korner". Sydney Morning Herald. Fairfax Media. 30 November 2012.
## External links[edit]
Classification
D
* OMIM: 145500
* MeSH: D000075222
External resources
* Orphanet: 243761
* v
* t
* e
Cardiovascular disease (vessels)
Arteries, arterioles
and capillaries
Inflammation
* Arteritis
* Aortitis
* Buerger's disease
Peripheral artery disease
Arteriosclerosis
* Atherosclerosis
* Foam cell
* Fatty streak
* Atheroma
* Intermittent claudication
* Critical limb ischemia
* Monckeberg's arteriosclerosis
* Arteriolosclerosis
* Hyaline
* Hyperplastic
* Cholesterol
* LDL
* Oxycholesterol
* Trans fat
Stenosis
* Carotid artery stenosis
* Renal artery stenosis
Other
* Aortoiliac occlusive disease
* Degos disease
* Erythromelalgia
* Fibromuscular dysplasia
* Raynaud's phenomenon
Aneurysm / dissection /
pseudoaneurysm
* torso: Aortic aneurysm
* Abdominal aortic aneurysm
* Thoracic aortic aneurysm
* Aneurysm of sinus of Valsalva
* Aortic dissection
* Aortic rupture
* Coronary artery aneurysm
* head / neck
* Intracranial aneurysm
* Intracranial berry aneurysm
* Carotid artery dissection
* Vertebral artery dissection
* Familial aortic dissection
Vascular malformation
* Arteriovenous fistula
* Arteriovenous malformation
* Telangiectasia
* Hereditary hemorrhagic telangiectasia
Vascular nevus
* Cherry hemangioma
* Halo nevus
* Spider angioma
Veins
Inflammation
* Phlebitis
Venous thrombosis /
Thrombophlebitis
* primarily lower limb
* Deep vein thrombosis
* abdomen
* Hepatic veno-occlusive disease
* Budd–Chiari syndrome
* May–Thurner syndrome
* Portal vein thrombosis
* Renal vein thrombosis
* upper limb / torso
* Mondor's disease
* Paget–Schroetter disease
* head
* Cerebral venous sinus thrombosis
* Post-thrombotic syndrome
Varicose veins
* Gastric varices
* Portacaval anastomosis
* Caput medusae
* Esophageal varices
* Hemorrhoid
* Varicocele
Other
* Chronic venous insufficiency
* Chronic cerebrospinal venous insufficiency
* Superior vena cava syndrome
* Inferior vena cava syndrome
* Venous ulcer
Arteries or veins
* Angiopathy
* Macroangiopathy
* Microangiopathy
* Embolism
* Pulmonary embolism
* Cholesterol embolism
* Paradoxical embolism
* Thrombosis
* Vasculitis
Blood pressure
Hypertension
* Hypertensive heart disease
* Hypertensive emergency
* Hypertensive nephropathy
* Essential hypertension
* Secondary hypertension
* Renovascular hypertension
* Benign hypertension
* Pulmonary hypertension
* Systolic hypertension
* White coat hypertension
Hypotension
* Orthostatic hypotension
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Essential hypertension
|
c0085580
| 27,128 |
wikipedia
|
https://en.wikipedia.org/wiki/Essential_hypertension
| 2021-01-18T19:04:05 |
{"mesh": ["D000075222"], "umls": ["C0085580"], "orphanet": ["243761"], "wikidata": ["Q988405"]}
|
Agitation often accompanies dementia and often precedes the diagnosis of common age-related disorders of cognition such as Alzheimer's disease (AD). More than 80% of people who develop AD eventually become agitated or aggressive.[1]
## Evaluation[edit]
It is important to rule out infection and other environmental causes of agitation, such as disease or other bodily discomfort, before initiating any intervention. If no such explanation is found, it is important to support caregivers and educate them about simple strategies such as distraction that may delay the transfer to institutional care (which is often triggered by the onset of agitation). [2]
## Treatment[edit]
There is no FDA-approved treatment for agitation in dementia.
Medical treatment may begin with a cholinesterase inhibitor, which appears safer than other alternatives although evidence for its efficacy is mixed. If this does not improve the symptoms, atypical antipsychotics may offer an alternative, although they are effective against agitation only in the short-term while posing a well-documented risk of cerebrovascular events (e.g. stroke). Other possible interventions, such as traditional antipsychotics or antidepressants, are less well studied for this condition. [3]
## References[edit]
1. ^ Jost BC, Grossberg GT (1996). "The evolution of psychiatric symptoms in Alzheimer's disease: a natural history study". J Am Geriatr Soc. 44 (20): 1078–1081. PMID 8790235.
2. ^ Mittelman MS, Haley WE, Clay OJ, et al. (2006). "Improving caregiver well-being delays nursing home placement of patients with Alzheimer disease". Neurology. 67 (9): 1592–1599. doi:10.1212/01.wnl.0000242727.81172.91. PMID 17101889.
3. ^ James M. Ellison (February 1, 2008). "Agitation in dementia: Update and prospectus". Psychiatric Times. 25 (2).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Agitation (dementia)
|
None
| 27,129 |
wikipedia
|
https://en.wikipedia.org/wiki/Agitation_(dementia)
| 2021-01-18T18:57:49 |
{"wikidata": ["Q4692699"]}
|
This is an extra small cusp located on the buccal side of the permanent molar teeth, usually the upper second and third. Its significance is unknown.
Inheritance \- Autosomal dominant Teeth \- Extra small buccal cusp of permanent molars ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
PARAMOLAR TUBERCLE OF BOLK
|
c0266029
| 27,130 |
omim
|
https://www.omim.org/entry/168200
| 2019-09-22T16:36:34 |
{"omim": ["168200"], "icd-10": ["K00.2"], "synonyms": ["Alternative titles", "BOLK CUSP"]}
|
Benign symmetric lipomatosis
Other namesBenign symmetric lipomatosis of Launois–Bensaude, Madelung's disease, multiple symmetric lipomatosis, cephalothoracic lipodystrophy
A young man with benign symmetric lipomatosis (Madelung's disease) of unknown cause
SpecialtyEndocrinology
Benign symmetric lipomatosis is a skin condition characterized by extensive symmetric fat deposits in the head, neck, and shoulder girdle area.[1] The German surgeon Otto Wilhelm Madelung was the first to give a detailed description of the disorder. This condition is very rare, with an estimated incidence rate of 1 in 25,000, and affects males up to 30 times more frequently than females.[2]
## Contents
* 1 Cause
* 2 Treatment
* 3 Society
* 4 See also
* 5 References
* 6 External links
## Cause[edit]
The cause of the disease remains unknown, but its incidence strongly correlates with alcohol abuse; abstinence from alcohol prevents disease progression. Defects in the adrenergic-stimulated lipolysis and accumulation of embryological brown fat have also been reported. Cosmetic disfigurement due to the fat deposition in the cervicothoracic region results in a "pseudoathletic appearance", resembling the Italian statue Warrior of Capestrano and carvings of Queen of Punt (Egypt).[3]
## Treatment[edit]
Traditionally the treatment is mainly surgical, consisting of the removal of the lipomas, although recent study has proposed liposuction and phosphatidylcholine injection as possible alternatives.[4]
## Society[edit]
The appearance of people with the disease is depicted in:
* Carvings of Queen of Punt (Egypt), as noted above[3]
* The Italian statue The Warrior of Capestrano, as noted above
* Donna Leon's crime novel, Beastly Things (2012), wherein the protagonist investigates the murder of a man who had the condition, which Brunetti learns has a high incidence in Italy[5]
## See also[edit]
* Lipomatosis
* List of cutaneous conditions
* Madelung's deformity
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ González-García R, Rodríguez-Campo FJ, Sastre-Pérez J, Muñoz-Guerra MF (2004). "Benign symmetric lipomatosis (Madelung's disease): case reports and current management". Aesthetic Plast Surg. 28 (2): 108–12, discussion 113. doi:10.1007/s00266-004-3123-5. PMID 15164232. S2CID 45300059.
3. ^ a b Medappil Noushif; Vasu TA (July 2010). "Madelung's disease: A spot diagnosis". Indian J Plast Surg. 43 (2): 227–8. doi:10.4103/0970-0358.73472. PMC 3010793. PMID 21217991.
4. ^ Hasegawa T, Matsukura T, Ikeda S (June 2009). "Mesotherapy for Benign Symmetric Lipomatosis". Aesthetic Plast Surg. 34 (2): 153–6. doi:10.1007/s00266-009-9374-4. PMID 19488808. S2CID 1678529.
5. ^ Leon, Donna (2012). Beastly Things (Commissario Brunetti, #21). Grove/Atlantic. p. 5 of Chapter 3. ISBN 978-0802120236.
## External links[edit]
Classification
D
* ICD-10: E88.8 (ILDS E88.820)
* ICD-9-CM: 272.8
* OMIM: 151800
* MeSH: D008069
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
* v
* t
* e
Congenital abnormality syndromes
Craniofacial
* Acrocephalosyndactylia
* Apert syndrome
* Carpenter syndrome
* Pfeiffer syndrome
* Saethre–Chotzen syndrome
* Sakati–Nyhan–Tisdale syndrome
* Bonnet–Dechaume–Blanc syndrome
* Other
* Baller–Gerold syndrome
* Cyclopia
* Goldenhar syndrome
* Möbius syndrome
Short stature
* 1q21.1 deletion syndrome
* Aarskog–Scott syndrome
* Cockayne syndrome
* Cornelia de Lange syndrome
* Dubowitz syndrome
* Noonan syndrome
* Robinow syndrome
* Silver–Russell syndrome
* Seckel syndrome
* Smith–Lemli–Opitz syndrome
* Snyder–Robinson syndrome
* Turner syndrome
Limbs
* Adducted thumb syndrome
* Holt–Oram syndrome
* Klippel–Trénaunay–Weber syndrome
* Nail–patella syndrome
* Rubinstein–Taybi syndrome
* Gastrulation/mesoderm:
* Caudal regression syndrome
* Ectromelia
* Sirenomelia
* VACTERL association
Overgrowth syndromes
* Beckwith–Wiedemann syndrome
* Proteus syndrome
* Perlman syndrome
* Sotos syndrome
* Weaver syndrome
* Klippel–Trénaunay–Weber syndrome
* Benign symmetric lipomatosis
* Bannayan–Riley–Ruvalcaba syndrome
* Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl
* Bardet–Biedl syndrome
* Laurence–Moon syndrome
Combined/other,
known locus
* 2 (Feingold syndrome)
* 3 (Zimmermann–Laband syndrome)
* 4/13 (Fraser syndrome)
* 8 (Branchio-oto-renal syndrome, CHARGE syndrome)
* 12 (Keutel syndrome, Timothy syndrome)
* 15 (Marfan syndrome)
* 19 (Donohue syndrome)
* Multiple
* Fryns syndrome
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Benign symmetric lipomatosis
|
c0024445
| 27,131 |
wikipedia
|
https://en.wikipedia.org/wiki/Benign_symmetric_lipomatosis
| 2021-01-18T18:51:04 |
{"gard": ["6957"], "mesh": ["D008069"], "umls": ["C0024445"], "icd-9": ["272.8"], "icd-10": ["E88.8"], "orphanet": ["2398"], "wikidata": ["Q4887975"]}
|
A number sign (#) is used with this entry because amyotrophic lateral sclerosis-19 (ALS19) is caused by heterozygous mutation in the ERBB4 gene (600543) on chromosome 2q34.
For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).
Clinical Features
Takahashi et al. (2013) reported 3 Japanese sibs with onset of classic ALS between 60 and 70 years of age. They had relatively slowly progressive upper and lower motor neuron involvement without cognitive impairment. Two patients became ventilator-dependent and all 3 developed the locked-in state. Their deceased father was reportedly affected, but was not examined. An unrelated individual of Canadian origin had a similar disorder, with a positive family history. An additional Japanese proband with sporadic ALS showed earlier onset at 45 years of age and became wheelchair-bound.
Inheritance
The transmission pattern of ALS in the families reported by Takahashi et al. (2013) was consistent with autosomal dominant inheritance, and the authors postulated incomplete penetrance.
Molecular Genetics
In 3 Japanese sibs with late-onset amyotrophic lateral sclerosis-19, Takahashi et al. (2013) identified a heterozygous missense mutation in the ERBB4 gene (R927Q; 600543.0001). The mutation was found by whole-genome sequencing after exclusion of mutations in several known ALS-associated genes, and was consistent with linkage analysis. Sequencing of the ERBB4 gene in 364 familial ALS and 818 sporadic ALS cases identified 1 Canadian individual with familial ALS who also carried the same heterozygous R927Q mutation and a Japanese individual with sporadic ALS who carried a different de novo heterozygous missense mutation (R1275W; 600543.0002). The patients with the R927Q mutation had onset of classic upper and lower motor neuron degeneration between 60 and 70 years of age, whereas the patient with the R1275W mutation had earlier onset at age 45. In vitro functional expression studies in COS-7 cells showed that the mutant ERBB4 proteins had decreased autosphosphorylation upon NRG1 (142445) stimulation compared to wildtype. The findings suggested that disruption of the neuregulin-ERBB4 pathway is involved in the pathogenesis of ALS.
INHERITANCE \- Autosomal dominant RESPIRATORY \- Respiratory insufficiency due to muscle weakness NEUROLOGIC Central Nervous System \- Upper motor neuron degeneration \- Lower motor neuron degeneration \- Loss of ability to walk MISCELLANEOUS \- Adult onset (range 45 to 70 years) MOLECULAR BASIS \- Caused by mutation in the V-ERB-B2 avian erythroblastic leukemia viral oncogene homolog 4 gene (ERBB4, 600543.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
AMYOTROPHIC LATERAL SCLEROSIS 19
|
c0002736
| 27,132 |
omim
|
https://www.omim.org/entry/615515
| 2019-09-22T15:51:50 |
{"doid": ["0060210"], "mesh": ["D000690"], "omim": ["615515"], "orphanet": ["803"]}
|
## Summary
### Clinical characteristics.
NTHL1 tumor syndrome is characterized by an increased lifetime risk for colorectal cancer (CRC), breast cancer, and colorectal polyposis. Colorectal polyps can be adenomatous, hyperplastic, and/or sessile serrated. Duodenal polyposis has also been reported. Additional cancers reported in individuals with NTHL1 tumor syndrome include endometrial cancer, cervical cancer, urothelial carcinoma of the bladder, meningiomas, unspecified brain tumors, basal cell carcinomas, head and neck squamous cell carcinomas, and hematologic malignancies. The cumulative lifetime risk of developing extracolonic cancer by age 60 years has been estimated at 35% to 78%.
### Diagnosis/testing.
The diagnosis is established in a proband by identification of germline biallelic pathogenic variants in NTHL1 on molecular genetic testing.
### Management.
Treatment of manifestations: Colorectal polyps should be removed (polypectomy) until polypectomy alone cannot manage the large size and density of the polyps. At that point, either subtotal colectomy or proctocolectomy is performed based on polyp features and location. Large duodenal polyps or those polyps showing dysplasia or villous changes should be excised during endoscopy.
Surveillance: Due to the limited number of affected individuals reported, surveillance recommendations are likely to evolve. They currently include: colonoscopy with polypectomy every two years beginning at age 18-20 years; breast MRI examination annually between ages 30 and 60 years; mammography annually between ages 40 and 50 years, then every two years between ages 50 and 75 years; transvaginal ultrasound examination and endometrial biopsy to screen for endometrial cancer every two years between ages 40 and 60 years; upper endoscopy and side-viewing duodenoscopy every five years beginning at age 25 years.
Evaluation of relatives at risk: It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk sibs of an individual who has germline biallelic NTHL1 pathogenic variants in order to identify as early as possible those who would benefit from appropriate surveillance, early diagnosis, and treatment of NTHL1-associated tumors.
### Genetic counseling.
NTHL1 tumor syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.
## Diagnosis
Formal diagnostic criteria for NTHL1 tumor syndrome have not been established.
### Suggestive Findings
NTHL1 tumor syndrome should be suspected in an individual with the following clinical findings, family history, and/or molecular genetic findings on tumor tissue.
Clinical findings
* Presence of multiple primary cancers before age 50 years, especially including breast, colon, or urothelial cell cancer, brain tumors, head and neck squamous cell carcinoma, hematologic malignancies, endometrial malignancies and premalignancies, and/or basal cell carcinoma
* Colorectal cancer (CRC) diagnosed before age 40 years
* One or more colorectal adenomas in an individual age ≤40 years
* A personal cumulative lifetime history of ten or more colorectal adenomas in an individual age ≤60 years
* A personal cumulative lifetime history of any combination of 20 or more colorectal adenomas, hyperplastic polyps, and/or sessile serrated polyps in an individual of any age
Family history of multiple cancers (especially when including breast, colorectal, or urothelial cell cancer, brain tumors, head and neck squamous cell carcinoma, hematologic malignancies, endometrial malignancies and premalignancies, and/or basal cell carcinoma) consistent with autosomal recessive inheritance
Molecular genetic findings on tumor tissue. Identification of a specific mutational signature on tumor tissue testing due to a high percentage of somatic C>T transversions (e.g., COSMIC Signature 30) [Grolleman et al 2019]
### Establishing the Diagnosis
The diagnosis of NTHL1 tumor syndrome is established in a proband with biallelic germline NTHL1 pathogenic variants identified on molecular genetic testing [Weren et al 2015] (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (multigene panel, single-gene testing) and comprehensive genomic testing (exome sequencing, genome sequencing).
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of NTHL1 tumor syndrome is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of NTHL1 tumor syndrome has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When phenotypic findings suggest the diagnosis of NTHL1 tumor syndrome, molecular genetic testing approaches can include use of a multigene panel or single-gene testing:
* A CRC and polyposis multigene panel that includes NTHL1, APC, MUTYH, and other genes of interest (see Differential Diagnosis) is most likely to identify NTHL1 tumor syndrome at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. Of note, given the rarity of NTHL1 tumor syndrome, some cancer-predisposition multigene panels may not include NTHL1. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* Single-gene testing. Sequence analysis of NTHL1 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants. Sequence analysis of all six exons of NTHL1 is recommended. No large exon or whole-gene deletions or duplications in NTHL1 have yet been reported, but their contribution to NTHL1 tumor syndrome cannot be excluded. Therefore, copy number analysis is recommended, particularly when only one germline NTHL1 pathogenic variant has been identified in an individual with findings suggestive of NTHL1 tumor syndrome.
#### Option 2
When the diagnosis of NTHL1 tumor syndrome is not considered because an individual has atypical phenotypic features, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible.
If exome sequencing is not diagnostic, an exome array (when clinically available) may be considered to detect the known pathogenic variants as well as (multi)exon deletions or duplications. Thus far, NTHL1 copy number aberrations have not been described in individuals with NTHL1 tumor syndrome.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in NTHL1 Tumor Syndrome
View in own window
Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
NTHL1Sequence analysis 323/23 4
Gene-targeted deletion/duplication analysis 5None reported 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
Rivera et al [2015], Weren et al [2015], Chubb et al [2016], Belhadj et al [2017], Fostira et al [2018], Altaraihi et al [2019], Belhadj et al [2019], Grolleman et al [2019], Groves et al [2019]
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole.
6\.
No data on detection rate of gene-targeted deletion/duplication analysis are available.
## Clinical Characteristics
### Clinical Description
NTHL1 tumor syndrome has been described in 20 families including 33 affected individuals [Rivera et al 2015, Weren et al 2015, Belhadj et al 2017, Broderick et al 2017, Fostira et al 2018, Altaraihi et al 2019, Belhadj et al 2019, Grolleman et al 2019, Groves et al 2019]. The following description of the phenotypic features associated with this condition is based on these reports.
Colon polyps. The 24 individuals reported by Grolleman et al [2019] who had been evaluated by colonoscopy were all found to have adenomatous polyps (range 1-100). Seven of these individuals had hyperplastic/sessile serrated polyps.
Colorectal cancer (CRC). Nineteen of 33 individuals reported to date developed CRC. The median age of onset was 61 years (range 33-73 years). Nine individuals were diagnosed with CRC before age 50 years [Fostira et al 2018, Belhadj et al 2019, Grolleman et al 2019]. CRC in individuals with NTHL1 tumor syndrome was mostly right-sided, but has been observed throughout the colon, from the rectum to the appendix [Rivera et al 2015, Weren et al 2015, Belhadj et al 2017, Grolleman et al 2019]. Metachronous or synchronous tumors were identified in six individuals [Grolleman et al 2019]. The limited number of families and the presence of a selection bias in the individuals reported to date hamper accurate cancer risk analysis. In the absence of timely surveillance, the lifetime risk for CRC in individuals with NTHL1 tumor syndrome is likely to be high.
Breast cancer was observed in nine of 15 women with NTHL1 tumor syndrome with a median age of onset of 49 years (range 38-63 years) [Grolleman et al 2019]. Three women had bilateral breast cancer. The reported subtypes included ductal, lobular, and mixed ductal/papillary. Hormone receptor status (triple negative) was reported in one individual.
Duodenal polyps and cancer. Multiple duodenal polyps were reported in two individuals with NTHL1 tumor syndrome [Weren et al 2015, Fostira et al 2018]. One individual also developed esophageal polyps. Another individual developed duodenal cancer at age 52 years [Weren et al 2015].
Other cancers. Endometrial cancer has been diagnosed in five of the 17 women with NTHL1 tumor syndrome reported thus far, with a median age of diagnosis of 57 years (range 47-74 years). Additional cancers reported in individuals with NTHL1 tumor syndrome include cervical cancer, urothelial carcinoma of the bladder, meningiomas, unspecified brain tumors, basal cell carcinomas, head and neck squamous cell carcinomas, and hematologic malignancies [Rivera et al 2015, Weren et al 2015, Belhadj et al 2017, Grolleman et al 2019]. Grolleman et al [2019] reported the presence of multiple primary tumors in 16 of 29 individuals (55%). Based on these findings, the cumulative lifetime risk of developing extracolonic cancer by age 60 years was estimated at 35% to 78% (95% CI) [Grolleman et al 2019].
Benign extraintestinal manifestations reported in some individuals include: skin hemangiomas, seborrheic keratosis, and intradermal nevi; ovarian and hepatic cysts; and breast papillomas. To date, the number of individuals reported with these features is low and an association with NTHL1 tumor syndrome is as yet unclear.
NTHL1 heterozygotes. The risk of developing CRC or other malignancy in individuals with a heterozygous germline NTHL1 pathogenic variant is unclear. In the eleven families reported by Grolleman et al [2019], three confirmed heterozygotes developed cancer. A previously reported individual with breast cancer was found to have a germline heterozygous NTHL1 variant (p.Gln287Ter) and loss of heterozygosity in tumor tissue [Nik-Zainal et al 2016, Drost et al 2017].
### Genotype-Phenotype Correlations
No genotype-phenotype correlations have been identified.
### Nomenclature
This condition has been referred to as NTHL1 polyposis and familial adenomatous polyposis 3 (OMIM 616415), terms which emphasize the similarity with MUTYH polyposis [Belhadj et al 2017, Groves et al 2019, Valle et al 2019]. Considering the broad tumor spectrum reported in individuals with biallelic NTHL1 pathogenic variants, and the fact that the diagnosis has been identified in individuals without CRC and/or (suspected) polyposis, the term NTHL1 tumor syndrome is preferred.
### Prevalence
The prevalence of NTHL1 tumor syndrome is unknown. Based on the prevalence of NTHL1 pathogenic variants in the population, it has been estimated that in Europeans, NTHL1 tumor syndrome would occur with a frequency approximately one fifth (1:114,770) that of MUTYH polyposis (1:19,079) [Weren et al 2018].
## Differential Diagnosis
### Table 2.
Genes to Consider in the Differential Diagnosis of NTHL1 Tumor Syndrome
View in own window
MOIGene(s) 1DisorderClinical Features of Differential Disorder
Overlapping w/NTHL1 tumor syndromeDistinguishing from NTHL1 tumor syndrome
ARMSH3Familial adenomatous polyposis 4
(OMIM 617100)
* ↑ CRC risk
* 10-100 adenomas
* Duodenal adenomas
No other cancer risk reported
MUTYHMUTYH polyposis
* ↑ CRC risk
* Usually 10-100 adenomas
* Serrated polyps also observed
* Duodenal adenomas
ADAPCAttenuated familial adenomatous polyposis
* ↑ CRC risk
* Usually 10-100 adenomas
* Duodenal adenomas
Extracolonic manifestations (e.g., desmoid tumors, fundic gland polyps, congenital hypertrophy of retinal pigmented epithelium, dental abnormalities, fibromas, lipomas, & osteomas)
BMPR1A
SMAD4Juvenile polyposis syndrome↑ CRC risk
* GI hamartomatous (juvenile) polyps
* ↑ risk of cancers of upper GI tract & pancreas
* Hereditary hemorrhagic telangiectasia (SMAD4-related)
EPCAM
MLH1
MSH2
MSH6
PMS2Lynch syndrome
* ↑ CRC risk
* Endometrial cancer
* Usually <10 adenomas
* ↑ risk for ovarian cancer
* Sebaceous skin tumors
* Mismatch repair deficient tumors
Duplication upstream of GREM1Hereditary mixed polyposis syndrome
(OMIM 601228)
* Adenomatous polyps
* ↑ CRC risk
Mixed polyposis (hyperplastic, atypical juvenile & adenomatous polyps)
POLD1CRC, susceptibility to, 10
(OMIM 612591)
* 10-100 adenomas
* ↑ CRC & endometrial cancer risk
Astrocytoma risk
POLECRC, susceptibility to, 12
(OMIM 615083)
* 10-100 adenomas
* ↑ CRC, ureter, & endometrial cancer
↑ risk for ovarian, gastric cancer, & astrocytoma
PTENPTEN hamartoma tumor syndrome↑ CRC, breast, & endometrial cancer risk
* Multiple hamartomatous & mixed polyps in GI tract
* Macrocephaly, lipomas of the skin & multinodular goiter
* ↑ risks for melanoma, thyroid, & renal cancers
STK11Peutz-Jeghers syndrome↑ CRC & breast cancer risk
* GI hamartomatous polyps, most often in small bowel
* Typical mucocutaneous pigmentation
* ↑ risk for lung, gastric, pancreas, & sex organ cancers
TP53Li-Fraumeni syndrome↑ CRC & breast cancer risk↑ risk for sarcoma, lung cancer, adrenocortical carcinoma, choroid plexus carcinoma, & additional cancers
AD = autosomal dominant; AR = autosomal recessive; GI = gastrointestinal; MOI = mode of inheritance; CRC = colorectal cancer
1\.
Listed by mode of inheritance, then alphabetically by gene
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with NTHL1 tumor syndrome, the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Due to the lifelong increased cancer risk and the diversity of tumors associated with NTHL1 tumor syndrome, evaluations for cancer in individuals with NTHL1 tumor syndrome need to be ongoing and comprehensive (see Surveillance). Individuals with NTHL1 tumor syndrome should seek a cancer genetics consultation to review the diagnosis and medical management recommendations.
### Treatment of Manifestations
In general, the treatment regarding gastrointestinal tumors is similar to that of familial adenomatous polyposis (FAP) and attenuated familial adenomatous polyposis (AFAP) (see APC-Associated Polyposis Conditions).
Colon polyps and colon cancer. Colonoscopy is effective surveillance for colon cancer; polyps should be removed (polypectomy) until polypectomy alone cannot manage the large size and density of the polyps. At that point, either subtotal colectomy or proctocolectomy is performed based on polyp features and location [Lipton & Tomlinson 2006, Sampson & Jones 2009].
Breast cancer, endometrial cancer, and other cancers. The treatment for these cancers in individuals with NTHL1 tumor syndrome is the same as for that of the general population.
Duodenal polyps. Management of polyps is similar to that in individuals with FAP. In particular, large polyps or those polyps showing dysplasia or villous changes should be excised during endoscopy.
### Surveillance
### Table 3.
Recommended Surveillance for Individuals with NTHL1 Tumor Syndrome
View in own window
ConcernEvaluationFrequency
Colon cancerColonoscopyEvery 2 yrs starting at age 18-20 yrs
Breast cancerBreast MRIAnnually between ages 30 & 60 yrs; MRI sensitivity is greater than that of mammography.
Mammography
* Annually between ages 40 & 50 yrs
* Every 2 yrs between ages 50 & 75 yrs
Endometrial
cancerTransvaginal ultrasound examination & endometrial biopsyEvery 2 yrs between ages 40 & 60 yrs
Duodenal
polyps/cancerUpper endoscopyStarting at age 25 yrs; frequency per Spigelman criteria (at least every 5 yrs) [Spigelman et al 1989]
Individuals heterozygous for a germline NTHL1 pathogenic variant. To date, there is no evidence that NTHL1 heterozygotes are at increased risk for cancer and there are no specific screening recommendations for heterozygous relatives of individuals with NTHL1 tumor syndrome. NTHL1 heterozygotes are advised to participate in population screening measures for colorectal cancer and breast cancer, or could be offered screening based on their family history (e.g., incidence of CRC and/or breast cancer in family members who do not have biallelic NTHL1 pathogenic variants).
### Evaluation of Relatives at Risk
It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk sibs of an individual who has biallelic germline NTHL1 pathogenic variants in order to identify as early as possible those who would benefit from appropriate surveillance (beginning at age 18 years), early diagnosis, and treatment of NTHL1-associated tumors.
In general, molecular genetic testing for NTHL1 tumor syndrome is not recommended for at-risk individuals younger than age 18 years. However, predictive testing should be considered if there is a history of early-onset cancer in the family. For unaffected individuals with biallelic NTHL1 pathogenic variants, screening should begin by age 18 years, or two to five years earlier than the earliest diagnosis in the family [NCCN 2016]. Therefore, a history of early cancers in the family may warrant testing prior to age 18.
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
NTHL1 Tumor Syndrome
|
None
| 27,133 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK555473/
| 2021-01-18T21:08:58 |
{"synonyms": ["NTHL1-Associated Polyposis"]}
|
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (September 2009) (Learn how and when to remove this template message)
Liver tumor
Other namesHepatic tumors
SpecialtyOncology
Liver tumors are tumors or growths on or in the liver. Several distinct types of tumors can develop in the liver because the liver is made up of various cell types. These growths can be benign or malignant (cancerous). They may be discovered on medical imaging (even for a different reason than the cancer itself), or may be present in patients as an abdominal mass, hepatomegaly, abdominal pain, jaundice, or some other liver dysfunction.
## Contents
* 1 Classification
* 1.1 Cancerous
* 1.2 Benign
* 2 Diagnosis
* 2.1 Ultrasound
* 2.2 Computed tomography
* 3 References
* 4 External links
## Classification[edit]
Liver tumor types by relative incidence in adults in the United States.[1]
There are many forms of liver tumors:
### Cancerous[edit]
Large HCC filling almost entire of right lobe
Cross section of a human liver, showing multiple large pale tumor deposits. The tumor is an adenocarcinoma derived from a primary lesion in the body of the pancreas.
Main article: Liver cancer
* Most cases are metastases from other tumors, frequently of the GI tract (like colon cancer, carcinoid tumors mainly of the appendix, etc.), but also from breast cancer, ovarian cancer, lung cancer, renal cancer, prostate cancer, etc.
* The most frequent, malignant, primary liver cancer is hepatocellular carcinoma (HCC, also named hepatoma, which is a misnomer because adenomas are usually benign).
* More rare primary forms of liver cancer include cholangiocarcinoma, mixed tumors, sarcoma and hepatoblastoma; a rare malignant tumor in children.
### Benign[edit]
There are several types of benign liver tumors.
Hemangiomas: These are the most common type of benign liver tumor, found in up to 7% of autopsy specimens. They start in blood vessels. Most of these tumors do not cause symptoms and do not need treatment. Some may bleed and need to be removed if it is mild to severe. A rare tumor is Infantile hemangioendothelioma.
Hepatic adenomas: These benign epithelial liver tumors develop in the liver and are also an uncommon occurrence, found mainly in women using estrogens as contraceptives, or in cases of steroid abuse. They are, in most cases, located in the right hepatic lobe and are frequently seen as solitary. The size of adenomas range from 1 to 30 cm. Symptoms associated with hepatic adenomas are all associate with large lesions which can cause intense abdominal pain. Over the last few decades, there has been an increase with occurrences of this specific type of adenoma. The prognosis for these tumors has still not been mastered. Some correlations have been made such as malignant transformation, spontaneous hemorrhage, and rupture.
Focal nodular hyperplasia (FNH) is the second most common tumor of the liver. This tumor is the result of a congenital arteriovenous malformation hepatocyte response. This process is one in which all normal constituents of the liver are present, but the pattern by which they are presented is abnormal. Even though those conditions exist the liver still seems to perform in the normal range. Other types include nodular regenerative hyperplasia and hamartoma.
## Diagnosis[edit]
Further information: Hepatocellular_carcinoma § Diagnosis
Upon discovery of a liver tumor, the main issue in the workup is to determine whether the tumor is benign or malignant. Many imaging modalities are used to aid in the diagnosis of malignant liver tumors. For the most common of these, hepatocellular carcinoma (HCC), these include sonography (ultrasound), computed tomography (CT) and magnetic resonance imaging (MRI). When imaging the liver with ultrasound, a mass greater than 2 cm has more than 95% chance of being HCC. The majority of cholangiocarcimas occur in the hilar region of the liver, and often present as bile duct obstruction. If the cause of obstruction is suspected to be malignant, endoscopic retrograde cholangiopancreatography (ERCP), ultrasound, CT, MRI and magnetic resonance cholangiopancreatography (MRCP) are used.[2]
Tumor markers, chemicals sometimes found in the blood of people with cancer, can be helpful in diagnosing and monitoring the course of liver cancers. High levels of alpha-fetoprotein (AFP) in the blood can be found in many cases of HCC and intrahepatic cholangiocarcinoma. Cholangiocarcinoma can be detected with these commonly used tumor markers: carbohydrate antigen 19-9 (CA 19-9), carcinoembryonic antigen (CEA) and cancer antigen 125 (CA125). These tumour markers are found in primary liver cancers, as well as in other cancers and certain other disorders.[3][4]
### Ultrasound[edit]
Main article: Ultrasonography of liver tumors
Ultrasonography of liver tumors involves two stages: detection and characterization.[citation needed] Tumor detection is based on the performance of the method and should include morphometric information (three axes dimensions, volume) and topographic information (number, location specifying liver segment and lobe/lobes). The specification of these data is important for staging liver tumors and prognosis.[citation needed] Tumor characterization is a complex process based on a sum of criteria leading towards tumor nature definition. Often, other diagnostic procedures, especially interventional ones are no longer necessary. Tumor characterization using the ultrasound method will be based on the following elements: consistency (solid, liquid, mixed), echogenicity, structure appearance (homogeneous or heterogeneous), delineation from adjacent liver parenchyma (capsular, imprecise), elasticity, posterior acoustic enhancement effect, the relation with neighboring organs or structures (displacement, invasion), vasculature (presence and characteristics on Doppler ultrasonography and contrast-enhanced ultrasound (CEUS).[citation needed]
### Computed tomography[edit]
Selected images from a biphasic CT of Focal Nodular Hyperplasia in the left hepatic lobe (arrow). These masses have characteristic early arterial enhancement (6a) with contrast wash out on the portal venous phase images (6b) from the mass making these lesions difficult to identify on portal venous phase images alone.[citation needed]
When evaluating hepatic masses by abdominal computed tomography (CT), it can be advantageous to have both late arterial and portal venous phase images since some tumors enhance briskly during the arterial phase (hepatocellular carcinoma, hepatic adenoma, follicular nodular hyperplasia (FNH), and hypervascular metastasis), but may be occult or difficult to characterize on portal venous phase imaging alone. However, it should be stressed that the addition of late arterial phase images is only indicated if one of these tumors is suspected, or if there is a need for further characterization of a hepatic mass, since the large majority of patients will not benefit from the addition of this phase. In addition, if there is a need to definitively characterize a hepatic mass, MRI is generally more sensitive and specific, with no associated radiation dose.[citation needed]
## References[edit]
1. ^ Table 37.2 in: Sternberg, Stephen (2012). Sternberg's diagnostic surgical pathology. Place of publication not identified: LWW. ISBN 978-1-4511-5289-0. OCLC 953861627.CS1 maint: ref=harv (link)
2. ^ Ariff, B; Lloyd, CR; Khan, S; Shariff, M; Thillainayagam, AV; Bansi, DS; Khan, SA; Taylor-Robinson, SD; Lim, AK (Mar 21, 2009). "Imaging of liver cancer". World Journal of Gastroenterology. 15 (11): 1289–300. doi:10.3748/wjg.15.1289. PMC 2658841. PMID 19294758.
3. ^ Malaguarnera, G; Paladina, I; Giordano, M; Malaguarnera, M; Bertino, G; Berretta, M (2013). "Serum markers of intrahepatic cholangiocarcinoma". Disease Markers. 34 (4): 219–28. doi:10.1155/2013/196412. PMC 3809974. PMID 23396291.
4. ^ Zhao YJ, Ju Q, Li GC (2013). "Tumor markers for hepatocellular carcinoma". Mol Clin Oncol. 1 (4): 593–598. doi:10.3892/mco.2013.119. PMC 3915636. PMID 24649215.
## External links[edit]
* Liver cancer at Mayo Clinic
Classification
D
* MeSH: D008113
Wikimedia Commons has media related to Liver tumors.
* v
* t
* e
Digestive system neoplasia
GI tract
Upper
Esophagus
* Squamous cell carcinoma
* Adenocarcinoma
Stomach
* Gastric carcinoma
* Signet ring cell carcinoma
* Gastric lymphoma
* MALT lymphoma
* Linitis plastica
Lower
Small intestine
* Duodenal cancer
* Adenocarcinoma
Appendix
* Carcinoid
* Pseudomyxoma peritonei
Colon/rectum
* Colorectal polyp: adenoma, hyperplastic, juvenile, sessile serrated adenoma, traditional serrated adenoma, Peutz–Jeghers
Cronkhite–Canada
* Polyposis syndromes: Juvenile
* MUTYH-associated
* Familial adenomatous/Gardner's
* Polymerase proofreading-associated
* Serrated polyposis
* Neoplasm: Adenocarcinoma
* Familial adenomatous polyposis
* Hereditary nonpolyposis colorectal cancer
Anus
* Squamous cell carcinoma
Upper and/or lower
* Gastrointestinal stromal tumor
* Krukenberg tumor (metastatic)
Accessory
Liver
* malignant: Hepatocellular carcinoma
* Fibrolamellar
* Hepatoblastoma
* benign: Hepatocellular adenoma
* Cavernous hemangioma
* hyperplasia: Focal nodular hyperplasia
* Nodular regenerative hyperplasia
Biliary tract
* bile duct: Cholangiocarcinoma
* Klatskin tumor
* gallbladder: Gallbladder cancer
Pancreas
* exocrine pancreas: Adenocarcinoma
* Pancreatic ductal carcinoma
* cystic neoplasms: Serous microcystic adenoma
* Intraductal papillary mucinous neoplasm
* Mucinous cystic neoplasm
* Solid pseudopapillary neoplasm
* Pancreatoblastoma
Peritoneum
* Primary peritoneal carcinoma
* Peritoneal mesothelioma
* Desmoplastic small round cell tumor
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Liver tumor
|
c0023903
| 27,134 |
wikipedia
|
https://en.wikipedia.org/wiki/Liver_tumor
| 2021-01-18T18:55:31 |
{"mesh": ["D008113"], "umls": ["C0023903"], "wikidata": ["Q1671502"]}
|
A number sign (#) is used with this entry because nephronophthisis-11 (NPHP11) is caused by homozygous or compound heterozygous mutation in the TMEM67 gene (609884) on chromosome 8q22.
Mutations in the TMEM67 gene can also cause Meckel syndrome-3 (MKS3; 607361), Joubert syndrome-6 (JBTS6; 610688), and COACH syndrome (216360), all of which show more severe yet overlapping clinical features with NPHP.
For a general phenotypic description and a discussion of genetic heterogeneity of NPHP, see NPHP1 (256100).
Clinical Features
Boichis et al. (1973) described an association of nephronophthisis and congenital hepatic fibrosis in sibs. Five had demonstrated renal disease. Two died of renal failure at ages 7 and 15, and a third was maintained on hemodialysis. Approximately 5% of patients with NPHP have hepatic fibrosis (Otto et al., 2009).
Otto et al. (2009) described a consanguineous Turkish family in which 3 sibs had nephronophthisis and hepatic fibrosis. The diagnosis of NPHP was based on (1) characteristic clinical signs of NPHP including chronic renal failure, polyuria, polydipsia, anemia, and growth retardation; (2) renal ultrasound or renal biopsy compatible with the diagnosis; and (3) a pedigree compatible with autosomal recessive inheritance. After initial investigation, several other affected individuals were identified from a larger cohort of 60 probands. All patients developed end-stage renal disease (ESRD) between the age of 6 and 14 years and all had liver fibrosis. Three patients had ocular symptoms, including strabismus/nystagmus, retinal degeneration, and anisocoria, respectively. Patients had no or only mild neurologic involvement, and none had brain MRI abnormalities. One patient had mild 'statomotoric' retardation and another had psychomotor retardation.
Molecular Genetics
In patients with nephronophthisis and hepatic fibrosis, Otto et al. (2009) identified homozygous or compound heterozygous missense mutations in the TMEM67 gene (see, e.g., 609884.0018-609884.0021). Mutations in the TMEM67 gene were not found in 105 NPHP patients without liver fibrosis, suggesting that liver fibrosis is a specific feature of TMEM67 mutations. Otto et al. (2009) concluded that mutations in TMEM67 can cause NPHP in patients with additional liver fibrosis, normal brain imaging, and no neurologic involvement, and that NPHP11, MKS3, and JBTS6 represent a spectrum of allelic disorders. However, mutations were only identified in 8% of patients with NPHP and hepatic fibrosis, indicating genetic heterogeneity for this combination of features.
INHERITANCE \- Autosomal recessive GROWTH Other \- Growth retardation HEAD & NECK Eyes \- Retinal degeneration (in 1 patient) \- Anisocoria (in 1 patient) \- Strabismus (in 1 patient) \- Nystagmus (in 1 patient) ABDOMEN Liver \- Hepatic fibrosis GENITOURINARY Kidneys \- Nephronophthisis \- End stage renal disease \- Tubular atrophy \- Tubular basement membrane disintegration \- Interstitial fibrosis \- Corticomedullary renal cysts NEUROLOGIC Central Nervous System \- Mild cortical atrophy (in 1 patient) \- Psychomotor retardation (in 1 patient) METABOLIC FEATURES \- Polyuria \- Polydipsia HEMATOLOGY \- Anemia MISCELLANEOUS \- Onset in childhood MOLECULAR BASIS \- Caused by mutation in the transmembrane protein 67 gene (TMEM67, 609884.0018 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
NEPHRONOPHTHISIS 11
|
c3150796
| 27,135 |
omim
|
https://www.omim.org/entry/613550
| 2019-09-22T15:58:18 |
{"doid": ["0111118"], "omim": ["613550"], "orphanet": ["84081"], "synonyms": ["Boichis disease", "Nephronophthisis-hepatic fibrosis syndrome"], "genereviews": ["NBK368475"]}
|
A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Colobomatous macrophthalmia-microcornea syndrome
|
c1865286
| 27,136 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=468672
| 2021-01-23T18:28:38 |
{"mesh": ["C566533"], "omim": ["602499"], "synonyms": ["MACOM syndrome"]}
|
Chaddock reflex
Differential diagnosiscorticospinal tract damage
The Chaddock reflex is a diagnostic reflex similar to the Babinski reflex. Chaddock's sign is present when stroking of the lateral malleolus causes extension of the great toe, indicating damage to the corticospinal tract.[1]
It was identified by Charles Gilbert Chaddock in 1911.[2]
## References[edit]
1. ^ "Thefreedictionary". Retrieved 24 May 2017.
2. ^ Goetz CG (2002). "History of the extensor plantar response: Babinski and Chaddock signs". Seminars in neurology. 22 (4): 391–8. doi:10.1055/s-2002-36761. PMID 12539060.
* v
* t
* e
Symptoms and signs relating to the nervous system
Neurological examination · Cranial nerve examination
Central nervous system
Head
* Battle's sign
* Kernig's sign
* Macewen's sign
* Myerson's sign
* Stroop test
* Hirano body
Other
* increased intracranial pressure
* Cushing's triad
* Lhermitte's sign
* Charcot's neurologic triad
Peripheral nervous system
Reflexes
Combination
* Jendrassik maneuver
Legs
* Plantar reflex
* Chaddock reflex
* Oppenheim's sign
* Westphal's sign
Arms
* Hoffmann's sign
Other
Arms
* Froment's sign
* carpal tunnel syndrome
* Tinel sign
* Phalen maneuver
Legs
* Gowers' sign
* Hoover's sign
* Lasègue's sign
* Trendelenburg's sign
Torso
* Beevor's sign
General
* Pain stimulus
This medical sign article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Chaddock reflex
|
c1531651
| 27,137 |
wikipedia
|
https://en.wikipedia.org/wiki/Chaddock_reflex
| 2021-01-18T18:41:26 |
{"umls": ["C1531651"], "wikidata": ["Q143115"]}
|
Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets and as a result, there are fewer of these healthy cells. In myeloproliferative diseases, a greater than normal number of blood stem cells develop into one or more types of blood cells and the total number of blood cells slowly increases. The 3 main types of myelodysplastic/myeloproliferative diseases include chronic myelomonocytic leukemia (CMML); juvenile myelomonocytic leukemia (JMML); and atypical chronic myelogenous leukemia (aCML). When a myelodysplastic/myeloproliferative disease does not match any of these types, it is called myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC). Symptoms of CMML and JMML may include fever, feeling tired and weight loss. Symptoms of aCML may include easy bruising or bleeding and feeling tired or weak. Myelodysplastic/myeloproliferative diseases may progress to acute leukemia. There are different types of treatment for individuals with one of these diseases, which may include chemotherapy, another drug therapy, stem cell transplant and/or supportive care.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Myelodysplastic/myeloproliferative disease
|
c1301355
| 27,138 |
gard
|
https://rarediseases.info.nih.gov/diseases/9351/myelodysplasticmyeloproliferative-disease
| 2021-01-18T17:58:50 |
{"mesh": ["D054437"], "umls": ["C1301355"], "orphanet": ["98275"], "synonyms": ["Myelodysplastic/myeloproliferative neoplasm"]}
|
A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.
## Epidemiology
The incidence of ACFS has not been determined due to the low number of reported cases (9 to date). A similar occurrence among genders is expected.
## Clinical description
The spectrum of defects occurring in ACFS is wide, and both interindividual variability and clinical differences among sibs have been reported. Bilateral or unilateral cleft hand is a constant feature. Cleft foot and cutaneous finger and toe syndactyly have been reported in some cases. Congenital heart defects of varying types have been detected in two thirds of patients. Facial anomalies are not specific for the syndrome, and clinical expression appears to be variable. Male patients manifest different genital anomalies, ranging from micropenis to cryptorchidism and hypospadias. Growth retardation is a common prenatal and postnatal finding. The frequency of intellectual deficit in ACFS is at present unknown due to the early death of most patients. Neurological anomalies such as hypotonia, hypertonia, and seizures have been reported in the first days and months of life.
## Etiology
The genetic mechanism underlying ACFS is still unknown. Isolated or syndromic SHFM has been linked to different loci or genes. Mutations in the p63 gene, responsible for ectrodactyly - ectodermal dysplasia - cleft lip palate (EEC) syndrome (see this term) and related disorders with SHFM, have been excluded in a patient with ACFS.
## Diagnostic methods
Diagnosis is based solely on clinical characteristics. The major diagnostic criteria include SHFM and CHD. Cleft lip/palate and genital anomalies are less common features. Although facial anomalies are not specific to this disorder, low-set dysmorphic ears appear to be a constant feature.
## Differential diagnosis
Differential diagnosis includes other ectrodactyly syndromes and clefting conditions associated with genital anomalies. However, EEC syndrome, Rapp-Hodgkin syndrome (see these terms) and ectrodactyly-cleft lip/palate-hand/foot deformities-intellectual deficit can be ruled out based on lack of ectodermal involvement. Malpuech syndrome (see this term) can also be excluded based on distinct facial features and absent limb defects. CHD, cleft palate, and genital anomalies are features of genito-palato-cardiac syndrome, but none of the reported cases had ectrodactyly.
## Antenatal diagnosis
The major features of ACFS can be detected prenatally by ultrasonography. A second trimester scan, including echocardiography and upper/lower limb evaluation, is recommended for monitoring pregnancies when parents have had a child with the disorder.
## Genetic counseling
ACFS follows an autosomal recessive pattern of inheritance. The risk of transmitting the disease for the parents of an affected child seems to be up to 1 in 4.
## Management and treatment
Patients are at high risk of death in the first months of age. Cardiac and respiratory problems should be treated by specialists. A nutrition specialist should be consulted for feeding problems. Surviving patients will benefit from physical therapy, which should start in the first months of life in babies manifesting hypotonia/hypertonia and motor delays. In surviving patients, neuropsychological assessment should be performed every year to check for developmental and cognitive delay.
## Prognosis
Life expectancy is very low. Most reported patients survived only a few hours or months. Cardiopulmonary complications were the main cause of death.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Acrocardiofacial syndrome
|
c1838121
| 27,139 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2008
| 2021-01-23T18:55:38 |
{"gard": ["1167"], "mesh": ["C563936"], "omim": ["600460"], "umls": ["C1838121"], "icd-10": ["Q87.8"], "synonyms": ["ACFS", "CCGE syndrome", "Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome"]}
|
Empty shelves in a supermarket on 15 September
Customs Administration of the Czech Republic monitors observance of the ban in Prague, 13 September.
The 2012 Czech Republic methanol poisonings occurred in September 2012 in the Czech Republic, Poland and Slovakia.[1] In the course of several days, 38 people in the Czech Republic[2] and 4 people in Poland died as a result of methanol poisoning and many others were taken to hospital.[3][4] The poisonings continued for several years after the main wave. As of April 2014, there were 51 dead and many others suffered permanent health damage.[5]
The Czech government established a central emergency response council and banned the sale of liquors with more than 30% alcohol by volume at food stands on 12 September.[6] On 14 September, the ban was extended to any sale of all alcoholic beverages with an alcohol content above 20% vol.[7] On 20 September, export of such products was banned as well.[8] The restrictions on liquor sales were lifted on 27 September 2012.[9]
The police systematically checked shops where liquors were on sale. Led by police vice president Václav Kučera, a special police team called Metyl coordinated the investigations.[10] On 24 September, the police announced that the source of the methanol-contaminated alcohol had been identified. Two main suspects were arrested: Rudolf Fian, a businessman from Karviná of Slovak nationality, and Tomáš Křepela, a Czech company owner from Řitka. On 21 May, 2014, the two were sentenced to life imprisonment; eight others to imprisonment for 8 to 21 years.[11][12]
## Similar incidents in the past[edit]
A similar incident, the Pärnu methanol poisoning incident, occurred in Pärnu county, Estonia, in September 2001, when 68 people died and 43 were left disabled after contents of stolen methanol canisters were used in production of bootleg liquor.
## Film[edit]
Česká televize produced 2018 film Metanol. The film focuses on the distributors of the toxic alcohol and aftermath of the poisonings. The second part focuses on investigation and eventual trial of perpetrators.[13]
## References[edit]
1. ^ "Pierwsze przypadki zatrucia metanolem na Słowacji" (in Polish). dziennik.pl. 17 September 2012. Retrieved 17 September 2012.
2. ^ "S otravou metylalkoholem bojoval v nemocnici měsíc, nakonec zemřel" (in Czech). novinky.cz. 12 November 2012. Retrieved 12 November 2012.
3. ^ "Metanol má 21. oběť, zemřela žena z Českého Těšína" (in Czech). Novinky.cz. 17 September 2012. Retrieved 17 September 2012.
4. ^ "Cztery śmiertelne zatrucia metanolem w Polsce. Dwa przez czeski alkohol?" (in Polish). TVN24.pl. 17 September 2012. Retrieved 17 September 2012.
5. ^ Koledník přestával vidět, s podezřením na metanol skončil v nemocnici
6. ^ Kopecký, Josef (12 September 2012). "Stánkaři nesmí prodávat rozlévaný tvrdý alkohol, rozhodla vláda". iDNES.cz. Retrieved 24 September 2012.
7. ^ Hovet, Jason; Mlcochova, Jana (14 September 2012). "Czechs ban spirits sales after bootleg booze kills 19". Reuters. Retrieved 17 September 2012.
8. ^ Smísal, Matěj (20 September 2012). "Z Česka se nesmí dostat ani kapka alkoholu. Ministr zdravotnictví zakázal jeho vývoz" (in Czech). iHned.cz. Retrieved 21 September 2012.
9. ^ "Prohibice končí, hospodští ale většinou nemají co nalévat". deník.cz. Retrieved 30 November 2012.
10. ^ Velinger, Jan (12 September 2012). "Special police team created". Radio Prague. Archived from the original on 15 October 2012. Retrieved 17 September 2012.
11. ^ "Šuškalo se o něm leccos, říkají o hlavním obviněném v kauze metanol" (in Czech). Novinky.cz. 26 September 2012. Retrieved 7 October 2012.
12. ^ "Za metanolovou smrt padly doživotní tresty pro dva hlavní míchače". Mladá fronta DNES. iDNES. 21 May 2014. Retrieved 22 May 2014.
13. ^ "Film Metanol. Chtěl dům a chtěl bazén, tak zemřelo 48 lidí". Novinky.cz (in Czech). Retrieved 29 April 2018.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
2012 Czech Republic methanol poisonings
|
None
| 27,140 |
wikipedia
|
https://en.wikipedia.org/wiki/2012_Czech_Republic_methanol_poisonings
| 2021-01-18T18:37:44 |
{"wikidata": ["Q3543909"]}
|
Hydrofluoric acid burn
Other namesHydrofluoric acid toxicity
A hydrofluoric acid burn of the hand
SpecialtyToxicology
SymptomsSevere pain at the site of exposure[1]
Complicationselectrolyte, heart, lung, and neurological problems[1]
Usual onsetImmediate or delayed[1]
CausesHydrofluoric acid[1]
Diagnostic methodBased on history of exposure and symptoms[2]
TreatmentRemoving contaminated clothing, washing with water, calcium gluconate[1]
FrequencyRare[1]
A hydrofluoric acid burn is a chemical burn from hydrofluoric acid.[1] Where it contacts the skin it results in significant pain, swelling, redness, and skin breakdown.[1][2] If the fumes are breathed in swelling of the upper airway and bleeding may occur.[2] Complications can include electrolyte, heart, lung, kidney, and neurological problems.[1][2]
Most exposures occur at work.[2] With concentrations less than 7%, onset of symptoms may not occur for hours while with concentrations greater than 15% onset of symptoms is nearly immediate.[1] Diagnosis should including blood tests for calcium, potassium, and magnesium along with an electrocardiogram.[1]
Initial treatment of exposure involves removing contaminated clothing and washing with large amount of water over at least 30 minutes.[1] Other measures include applying calcium gluconate cream.[1] It is estimated that about a thousand cases occur a year.[1] Most people affected are adult males.[1]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 References
## Signs and symptoms[edit]
HF burns, not evident until a day after
Symptoms of HF exposure include irritation of the eyes, skin, nose, and throat, eye and skin burns, and bone damage.[3]
Complications may occur due to fluoride toxicity.[1] Once absorbed into blood through the skin, it reacts with blood calcium and may cause cardiac arrest. Burns with areas larger than 160 cm2 (25 square inches) have the potential to cause serious systemic toxicity from interference with blood and tissue calcium levels.[4] In some cases, exposures can lead to hypocalcemia.
Breathing in the HF fumes can result in fevers, pulmonary edema (fluid buildup in the lungs), bleeding, and low blood oxygen.[2]
## Cause[edit]
Hydrogen fluoride is used in a number of industries including glass etching and electronics manufacturing.[2]
It is generated upon combustion of many fluorine-containing compounds such as products containing Viton and polytetrafluoroethylene (Teflon) parts.[5] Hydrofluorocarbons in automatic fire suppression systems can release hydrogen fluoride at high temperatures, and this has led to deaths from acute respiratory failure in military personnel when a rocket-propelled grenade hit the fire suppression system in their vehicle.[6] Hydrofluoric acid can be released from volcanoes, sea salt aerosol, and from welding or manufacturing processes.[7]
## Pathophysiology[edit]
In the body, hydrofluoric acid reacts with the ubiquitous biologically important ions Ca2+ and Mg2+. Formation of insoluble calcium fluoride is proposed as the cause for both precipitous fall in serum calcium and the severe pain associated with tissue toxicity.[8]
## Diagnosis[edit]
Diagnosis should including blood tests for calcium, potassium, and magnesium along with an electrocardiogram (ECG).[1] ECG changes may include QRS widening and a prolonged QT interval.[2]
## Treatment[edit]
Initial treatment of exposure involves removing contaminated clothing and washing the affected area with large amount of water over at least 30 minutes.[1] Calcium gluconate cream is then usually applied.[1] If pain continues calcium gluconate can be injected into the affected area or given by injection into a vein or artery.[2] Surgical removal of the affected tissue may be required.[2]
The calcium gluconate is a source of Ca2+ that sequesters the fluoride ions. Other special rinsing solutions may also be used.[9][10]
Inhaled HF may require oxygen therapy and tracheal intubation.[2] In this situation neutralized calcium gluconate may be used.[2]
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s Schwerin, DL; Hatcher, JD (January 2019). "Hydrofluoric Acid Burns". StatPearls. PMID 28722859.
2. ^ a b c d e f g h i j k l Wang, X; Zhang, Y; Ni, L; You, C; Ye, C; Jiang, R; Liu, L; Liu, J; Han, C (December 2014). "A review of treatment strategies for hydrofluoric acid burns: current status and future prospects". Burns. 40 (8): 1447–57. doi:10.1016/j.burns.2014.04.009. PMID 24946967.
3. ^ "CDC – NIOSH Pocket Guide to Chemical Hazards – Hydrogen fluoride". www.cdc.gov. Retrieved 2015-11-28.
4. ^ "Recommended Medical Treatment for Hydrofluoric Acid Exposure" (PDF). Honeywell Specialty Materials. Archived from the original (PDF) on March 25, 2009. Retrieved 2009-05-06.
5. ^ Koch, Ernst-Christian (2002). "Metal-Fluorocarbon-Pyrolants IV: Thermochemical and Combustion Behaviour of Magnesium/Teflon/Viton (MTV)". Propellants, Explosives, Pyrotechnics. 27 (6): 340–351. doi:10.1002/prep.200290004.
6. ^ Chauviere, Matt; Zierold, Dustin (2011-09-17). "Hydrogen Fluoride Inhalation Injury from a Fire Suppression System". NATO. Retrieved 2013-08-22.
7. ^ "CDC – The Emergency Response Safety and Health Database: Systemic Agent: HYDROGEN FLUORIDE/ HYDROFLUORIC ACID – NIOSH". www.cdc.gov. Retrieved 2015-12-04.
8. ^ Hoffman, Robert S. et al. (2007) Goldfrank's Manual of Toxicologic Emergencies. New York: McGraw-Hill Professional, p. 1333, ISBN 0071509577.
9. ^ Hultén P, Höjer J, Ludwigs U, Janson A (2004). "Hexafluorine vs. standard decontamination to reduce systemic toxicity after dermal exposure to hydrofluoric acid". J. Toxicol. Clin. Toxicol. 42 (4): 355–61. doi:10.1081/CLT-120039541. PMID 15461243.
10. ^ "News & Views". Chemical Health and Safety. 12 (5): 35–37. September–October 2005. doi:10.1016/j.chs.2005.07.007.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Hydrofluoric acid burn
|
c0417571
| 27,141 |
wikipedia
|
https://en.wikipedia.org/wiki/Hydrofluoric_acid_burn
| 2021-01-18T18:35:30 |
{"umls": ["C0417571"], "wikidata": ["Q85767843"]}
|
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Intimal hyperplasia" – news · newspapers · books · scholar · JSTOR (October 2019)
Intimal hyperplasia is the thickening of the tunica intima of a blood vessel as a complication of a reconstruction procedure or endarterectomy. Intimal hyperplasia is the universal response of a vessel to injury and is an important reason of late bypass graft failure, particularly in vein and synthetic vascular grafts.
## See also[edit]
* Hyperplasia
* Medical grafting
## References[edit]
## External links[edit]
* "Intimal hyperplasia, the obstacle in bypass grafts"
This article about a medical condition affecting the circulatory system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Intimal hyperplasia
|
c0334096
| 27,142 |
wikipedia
|
https://en.wikipedia.org/wiki/Intimal_hyperplasia
| 2021-01-18T19:03:47 |
{"umls": ["C3854573"], "wikidata": ["Q16909635"]}
|
Acrokeratoelastoidosis of Costa
Other namesKeratoelastoidosis marginalis[1]
Autosomal dominant is the inheritance manner for this condition
SpecialtyDermatology
Acrokeratoelastoidosis of Costa is a familial condition characterized by multiple keratotic papules on the dorsum of the hands and feet, palms, soles, in which electron microscopy shows rarified, abnormal elastic tissue.[2]:993[3]:214
It was characterized in 1953.[4]
Treatments such as liquid nitrogen, salicylic acid, tretinoin, and prednisone have been tried, though with limited success.[5]
## See also[edit]
* Skin lesion
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
4. ^ Costa OG (1953). "Akrokerato-elastoidosis; a hitherto undescribed skin disease". Dermatologica. 107 (3): 164–8. doi:10.1159/000256794. PMID 13116681.
5. ^ Zhai Z, Yang X, Hao F (2006). "Acrokeratoelastoidosis". Eur J Dermatol. 16 (2): 201–2. PMID 16613753.
## External links[edit]
Classification
D
* OMIM: 101850
* MeSH: C535653
* DiseasesDB: 29804
External resources
* eMedicine: article/1113926
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Acrokeratoelastoidosis of Costa
|
c0545044
| 27,143 |
wikipedia
|
https://en.wikipedia.org/wiki/Acrokeratoelastoidosis_of_Costa
| 2021-01-18T19:00:01 |
{"gard": ["125"], "mesh": ["C535653"], "umls": ["C0545044"], "orphanet": ["38"], "wikidata": ["Q4675781"]}
|
A number sign (#) is used with this entry because complement component 5 deficiency can be caused by homozygous or compound heterozygous mutation in the C5 gene (120900).
Clinical Features
Dysfunction of the fifth component of complement (C5) was found to be the basis for the deficiency in phagocytosis-enhancing activity of serum present in a proband, her mother, and 15 other relatives (Miller and Nilsson, 1970).
Jacobs and Miller (1972) reported a second family with deficiency of C5. However, in this family 2 brothers were affected and the laboratory characteristics of the deficiency were different. The presence of low opsonic indices in relatives through each parent supported autosomal recessive inheritance. The clinical picture of affected children in both families was that described by Leiner (1908). The 4 cardinal features are (1) generalized seborrheic dermatitis, (2) intractable diarrhea, (3) recurrent local and systemic infections, usually of gram-negative etiology, and (4) marked wasting. The diagnostic test is for uptake of particles (baker's yeast) by leukocytes, since C5 is required for full opsonization. Immunochemical assays of C5 are normal. Recognition of this disorder is important because effective therapy is available. Fresh plasma contains opsonically active C5, which is absent in 5-day-old stored bank blood. The pedigree of the first family, as presented by Miller et al. (1968), is probably as consistent with recessive inheritance as with dominant.
Rosenfeld and Leddy (1974) found a kindred with C5 deficiency through studies of a black woman with systemic lupus erythematosus, frequent bacterial infections, and absent serum hemolytic complement activity. A healthy half sister had almost no C5 and 4 relatives had about half normal levels. The ability of the proband's serum to promote phagocytosis of baker's yeast by normal or self neutrophils was unimpaired--an apparent conflict with other studies cited above. Asghar et al. (1991) described C5 deficiency in association with discoid lupus erythematosus.
Snyderman et al. (1979) demonstrated that repeated disseminated gonococcal infection can be associated with C5 deficiency. They excluded linkage with HLA-A and HLA-B, as did Rosenfeld et al. (1976).
Sanal et al. (1992) described a 3-generation consanguineous Turkish family in which many individuals had C5 deficiency. Affected individuals had recurrent meningitis and meningococcemia, as well as recurrent purulent otitis media. One 13-year-old male with demonstrated C5 deficiency had no increased susceptibility to infection.
Molecular Genetics
In affected members 2 African American families segregating C5 deficiency (609536), Wang et al. (1995) identified mutations in the C5 gene (120900.0001-120900.0002).
Population Genetics
By screening for complement deficiencies in 145,640 blood donors from Osaka and combining their results with reports of 92,686 donors from throughout Japan, Fukumori and Horiuchi (1998) identified 5 individuals with C5 deficiency, 6 individuals with C6 deficiency (612446), 17 individuals with C7 deficiency (610102), 5 individuals with C8 alpha/gamma deficiency (613790), and 439 individuals with C9 deficiency (613825).
Animal Model
Miller and Nilsson (1970) studied genetic deficiency of C5 in mice.
In mice with C5 deficiency, Wetsel et al. (1990) found a deletion of 2 basepairs, TA, near the 5-prime end of the C5 cDNA. The deletion shifted the reading frame with the creation of a termination codon, UGA, 4 basepairs downstream from the deletion. The same deletion was found in 6 C5-deficient strains but in none of 4 C5-sufficient strains.
History
Schifferli and Hirschel (1985) suggested that deficiency of a late component of complement (C5 to C8) was present in G. D. Heist of Philadelphia, a scientist who gave the first description of complement deficiency and who himself died of meningococcal meningitis. The paper of Heist et al. (1922) stated: 'The subsequent history of man 'H' illustrates the lack of resistance to meningococcal infection that accompanies absence of bactericidal power against the meningococcus. Man 'H' was no other than Dr. George D. Heist, the chief author of this paper. With no known contact with patient or carrier, in the absence of any known cases in the city, Dr. Heist in August, 1920, developed epidemic cerebrospinal meningitis, and although the diagnosis was made early, the patient succumbed--a loss beyond measure to science and to his friends. The unique interest attaching to the case suggests the publication of certain particulars. Dr. Heist was 36 years of age. His father had died at the age of 24 of typhoid fever, the course of which presented many points of similarity to the fatal illness of the son. Four paternal uncles had died of acute illnesses that were said to have 'gone to the head.'' The work reported by Heist et al. (1922) concerned bactericidal properties of whole blood against strains of meningococcus. Control blood without bactericidal activity came from Dr. Heist. Schifferli and Hirschel (1985) excluded deficiency of an early component of complement because of the absence of recurrent pyogenic infection or features of lupus. They excluded properdin deficiency, which can be accompanied by susceptibility to meningococcal meningitis, because of its X-linked inheritance (312060).
Leiner (1908) described 43 children with an illness of generalized erythroderma, diarrhea, and failure to thrive, developing at the end of the first or beginning of the second month of life. He named the disorder 'erythroderma desquamativa.' Simon et al. (1965) described 3 male sibs with erythroderma, severe diarrhea, and reduced resistance to infection. Death occurred at the age of 2, 6 and 9 months. Postmortem findings included lymphatic hypoplasia and increase in reticular cells of the lymph nodes. Since that time, the designation 'Leiner's disease' has been used for a heterogeneous group of disorders covering a spectrum of erythroderma including atopic eczema, infantile seborrheic dermatitis, ichthyosiform erythroderma (242100), Netherton disease (256500), and immunodeficiency syndromes. Glover et al. (1988) urged that the term 'Leiner's disease' be avoided. They described 2 sibs and 3 other unrelated children with various immunologic abnormalities. Shield et al. (1992) stated that one of the children was later known to have Netherton syndrome and another Omenn syndrome (603554).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
COMPLEMENT COMPONENT 5 DEFICIENCY
|
c0343047
| 27,144 |
omim
|
https://www.omim.org/entry/609536
| 2019-09-22T16:05:59 |
{"doid": ["8158"], "mesh": ["C537005"], "omim": ["609536"], "icd-9": ["690.12"], "icd-10": ["L21.1"], "orphanet": ["169150", "314"], "synonyms": ["Leiner disease", "Immunodeficiency due to C5 to C9 component complement deficiency", "C5 DEFICIENCY", "Alternative titles", "Terminal complement pathway deficiency"]}
|
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-62 (RP62) is caused by homozygous mutation in the MAK gene (154235) on chromosome 6p24.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.
Clinical Features
Ozgul et al. (2011) studied 8 patients with retinitis pigmentosa who were found to have mutations in the MAK gene. The age at diagnosis in 3 patients was in the third decade of life, whereas the other 5 patients were diagnosed in the fourth through sixth decades of life. Visual acuity was relatively preserved, with 6 of the 8 patients having 20/40 acuity in at least 1 eye. Visual fields appeared to be more severely affected: half of the patients experienced tunnel vision of 25 degrees or less. Overall, patients with MAK mutations seemed to have a disease course that was somewhat less rapid and less severe than that observed in a number of other genetic forms of RP.
Molecular Genetics
Tucker et al. (2011) performed exome sequencing in a patient of Jewish ancestry with autosomal recessive retinitis pigmentosa and identified homozygosity for a 353-bp Alu insertion in the MAK gene (154235.0001). Screening of 1,798 unrelated individuals with autosomal recessive RP identified 20 additional probands who were homozygous for the same Alu insertion; 2 affected relatives were also found to be homozygous for the Alu insertion, whereas 5 unaffected relatives were not. All 21 families with the Alu insertion reported Jewish ancestry, although there was no known consanguinity. In 1 family, the unaffected mother had emigrated from Turkey, whereas the unaffected father had emigrated from Russia, suggesting that the founder of the mutation may have lived before the separation of the Sephardic and Ashkenazi groups in the Middle Ages. Tucker et al. (2011) noted that although MAK was originally described as a testis-enriched gene, human fertility appeared to be unaffected by loss of MAK function as the majority of individuals with MAK-associated RP in their study each had 2 or more children.
Ozgul et al. (2011) performed whole-exome sequencing in a 31-year-old Turkish woman with RP, born of first-cousin parents, who was negative for mutation in known RP genes. They identified homozygosity for a nonsense mutation in the MAK gene (154235.0002) that segregated with disease in the family and was not found in 130 Turkish controls. Whole-genome SNP analysis in 334 isolated or autosomal recessive RP patients of Dutch, Italian, Israeli, and Palestinian origin revealed 11 probands with a large homozygous region encompassing the MAK gene; homozygous missense mutations in MAK were identified in 3 of the probands (154235.0003-154235.0005). Direct sequencing of coding exons and splice junctions of the MAK gene in an additional 93 Dutch isolated or autosomal recessive RP patients revealed 1 proband with compound heterozygosity for missense mutations; however, the patient's sister, who was of uncertain disease status, also carried both mutations. Another patient was found to be heterozygous for a missense mutation; although no second mutation could be found, RNA analysis indicated lack of an RNA product from the second allele. Ozgul et al. (2011) noted that because all reported MAK mutations are shared by both retinal- and testis-enriched isoforms, it was possible that mutations in this gene could affect spermatogenesis.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Night blindness \- Visual field defects (severe in some patients) \- Visual acuity, relatively preserved \- Cataracts, congenital (in some patients) \- Diffuse or localized pigmentary changes, with bone spicules in some patients \- Optic disc pallor \- Attenuated vessels MISCELLANEOUS \- Onset in the 3rd decade of life or later MOLECULAR BASIS \- Caused by mutation in the male germ cell-associated kinase gene (MAK, 154235.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
RETINITIS PIGMENTOSA 62
|
c0035334
| 27,145 |
omim
|
https://www.omim.org/entry/614181
| 2019-09-22T15:56:14 |
{"doid": ["0110380"], "mesh": ["D012174"], "omim": ["614181"], "orphanet": ["791"], "genereviews": ["NBK1417"]}
|
Lee and Young (1953) described chylous ascites in 2 sisters under 1 year of age. One also had swelling of one arm evident at 1 week and the entire body somewhat later and developed bilateral glaucoma in the first 6 months of life. Both this patient and the younger sister had spontaneous clearing of the manifestations. Chylous ascites and chylous pleural effusions probably occur at times with hereditary lymphedema, but this condition in its various forms is usually dominant. Flores et al. (1979) reported congenital chylous ascites in a brother and sister with first-cousin parents. Lymphangiography showed no abnormality. Intestinal biopsy showed mucosal edema but no lymphangiectasia.
Limbs \- Arm swelling Eye \- Bilateral glaucoma Abdomen \- Chylous ascites, congenital Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
ASCITES, CHYLOUS
|
c0008732
| 27,146 |
omim
|
https://www.omim.org/entry/208300
| 2019-09-22T16:30:44 |
{"mesh": ["D002915"], "omim": ["208300"], "icd-10": ["I89.8"], "orphanet": ["1160"]}
|
A number sign (#) is used with this entry because some cases of split-hand/foot malformation-1 (SHFM1) represent a contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1 (601285), DLX5 (600028), and DLX6 (600030) genes and possible regulatory elements in the region. Evidence exists that SHFM1 can also be caused by heterozygous mutation in the DLX5 gene.
Description
Split-hand/foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, orofacial clefting (Elliott and Evans, 2006), and neurosensory hearing loss (Tackels-Horne et al., 2001).
### Genetic Heterogeneity of Split-Hand/Foot Malformation
Additional SHFM loci include SHFM2 (313350) on chromosome Xq26; SHFM3 (246560), caused by duplication of chromosome 10q24; SHFM4 (605289), caused by mutation in the TP63 gene (603273) on chromosome 3q27; SHFM5 (606708) on chromosome 2q31; and SHFM6 (225300), caused by mutation in the WNT10B gene (601906) on chromosome 12q13.
Also see SHFM1D (220600) for a form of SHFM1 with deafness that may be caused by homozygous mutation in the DLX5 gene (600028).
Clinical Features
The term ectrodactyly is derived from Greek ektroma (abortion) and daktylos (finger). It is a nonspecific term applied to a variety of malformations and is probably best reserved for transverse terminal aphalangia, adactylia, or acheiria. Cases defined in this way are usually sporadic. As a rule, one hand is involved and the feet are not affected. Congenital constriction rings ('amniotic bands') are sometimes associated. Many cases described as examples of autosomal dominant inheritance of ectrodactyly are in fact type B brachydactyly (113000) (Temtamy and McKusick, 1978). The anomaly here called split-hand deformity is also termed ectrodactyly.
Birch-Jensen (1949) recognized 2 anatomic types: typical 'lobster claw' and monodactyly. The anatomic classification has no genetic significance because either type may occur in the same family or on different limbs of the same person (Temtamy and McKusick, 1978). Absence of the central rays characterized the first anatomic type. The hand is divided into 2 parts by a cone-shaped cleft tapering proximally. The 2 parts of the hand can be apposed like a lobster claw. A comparable deformity of the feet may be present. In the second anatomic type, or monodactyly, the radial rays are absent with, as a rule, only the fifth digit remaining.
Vogel (1958) suggested that 2 varieties of split-hand deformity exist: (1) a type with constant involvement of the feet and regular autosomal dominant inheritance, and (2) a type with inconsistent involvement of the feet and irregular inheritance.
Viljoen and Beighton (1984) studied this anomaly in a remote African village. Lay reports of an 'ostrich-footed' tribe had appeared in the past.
Lewis (1912), subsequently Sir Thomas Lewis and a noted cardiologist, gave one of the earliest and clearest descriptions of a kindred with split-hand/split-foot.
Tackels-Horne et al. (2001) described 2 families with a form of SHFM in which deficiency of the central rays in the appendicular skeleton was associated with sensorineural hearing loss. In 1 family, variably expressed split-foot malformations were found in 6 of 11 presumed gene carriers, and mild to moderate sensorineural hearing loss in 4. Split-hand and cleft lip/palate in 1 individual and tibial deficiency in another suggested that these manifestations are uncommon components of the syndrome. There were no ectodermal abnormalities. In the other family, variable split-foot was observed in 3 of 4 gene carriers, and sensorineural deafness was present in 3. Split-hand was seen only in a gene carrier who also had split-foot and deafness. One gene carrier had only deafness.
Haberlandt et al. (2001) reported an 18-month-old boy, born of fourth-cousin Austrian parents, who had ectrodactyly of the right foot associated with conductive and profound sensorineural deafness and inner and middle ear malformations. Evaluation at 15 months of age due to failure to thrive revealed weight, length, and head circumference all below the 3rd centile; he also had arched eyebrows, a small triangular nose with depressed nasal bridge, hypertelorism, hypopigmented retina, large biparietal diameter, overfolded helices of ears with attached earlobes, micrognathia, submucous cleft palate, carious primary teeth and hypodontia, sparse light-colored hair, pale skin, cryptorchidism, and bilateral severe congenital vertical talus. In addition, psychomotor developmental delay was noted. CT and MRI scans revealed Mondini dysplasia of the inner ear, and cochlear implanting showed fixation of the ossicular chain.
Wieland et al. (2004) reported a 4-year-old boy with typical 'lobster claw' ectrodactyly of the left hand and both feet, with syndactyly of the third and fourth digits of the right hand, who also had dysplastic ears, retrognathia, and profound deafness with Mondini dysplasia of the inner ear on MRI. Psychomotor development was normal.
Wang et al. (2014) studied a Chinese mother and son with SHFM. The 31-year-old mother had typical deep median longitudinal clefts between the toes, with hands that appeared normal except for long thumbs. X-ray examination revealed triphalangeal thumbs as well as the absence of second metatarsals and second and third toes. Her 7-year-old son had 'lobster-claw-like' feet noted at birth, but no other visible abnormalities. There were no other affected family members.
Sowinska-Seidler et al. (2014) described affected individuals from 2 unrelated Polish families with isolated SHFM. In the first family, the only affected individual was a 28-month-old boy who was born with typical bilateral hand ectrodactyly involving aplasia of the middle finger. His feet were unaffected, and he had normal psychomotor development with no other congenital anomalies. In the second family, the proband was a 35-year-old man who had quadrupedal SHFM, with severe bilateral hypoplasia of the third fingers as well as fusion, contractures, and hypoplasia of the fourth and fifth fingers. He had bilateral split-foot malformation due to aplasia of the central digital ray, including the corresponding metatarsal. His 4-year-old son had a relatively mild unilateral defect of the left foot, consisting of a broad hallux, hypoplastic second toe, syndactyly of the third and fourth toes, and clinodactyly of the fifth toe. The proband's 5.5-year-old nephew had bilateral asymmetric split-foot malformation, with a broad hallux and absent central toes on the left, and shortening of the second and third toes on the right. His hands were normal. All affected individuals had normal intellectual development, and their SHFM phenotypes were not associated with hearing impairment or other congenital anomalies.
Population Genetics
Birch-Jensen (1949) estimated the frequency of split-hand/foot at birth to be about 1 in 90,000 in Denmark.
Inheritance
About 70 pedigrees were reported prior to 1965 (Temtamy and McKusick, 1978). Regular autosomal dominant inheritance through 3 or more generations was demonstrated by about 27 of the 70 pedigrees. Skipping of a generation was noted by at least 4 authors. Two or more affected sibs with both parents normal were noted by several authors, e.g., MacKenzie and Penrose (1951) and Neugebauer (1962). Gonadal (or germinal) mosaicism was suggested by Auerbach (1956) as a possible explanation. De Smet et al. (2001) presented further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected half sisters with the same normal father and different mothers presented with the typical syndrome.
In those pedigrees with variable involvement of the feet, the genetics is less clear. A disturbed segregation ratio was found in the family first reported by McMullan and Pearson (1913) and brought up to date by Stevenson and Jennings (1960). A marked preponderance of affected sons of affected fathers suggested germinal selection to the latter workers.
Ford (1963) raised the question of chromosomal aberration but could demonstrate none by the available methods. Anomalous segregation has also been observed with aniridia (106210) and with Alport syndrome (104200).
Ray (1970) described 2 cases among the children of first-cousin, unaffected parents.
The family described by Emery (1977) indicates how wide the gaps of failure of penetrance may be in a family and raises the question of minor hand anomalies as a partial expression.
Bujdoso and Lenz (1980) stated that monodactyly occurs with 3 distinct genetic forms of ectrodactyly, each an autosomal dominant. In the first type only the first and fifth or only the fifth toes are present on both feet. The trait is fully expressed in all affected children of patients, with no skipping of generations. On the other hand, both parents of several affected children may be normal, suggesting single strand mutation. The second type, the EEC syndrome (129900), which combines ectrodactyly with ectodermal defects and cleft lip-palate, has monodactyly less frequently and has more variable limb malformations. In the third type of ectrodactyly, extreme intrafamilial variability is the rule.
Zlotogora (1994) analyzed reported pedigrees with nonsyndromal SHSF (without other limb defects) and showed dominant transmission of the defect with almost complete penetrance (99/103).
Jarvik et al. (1994) studied new pedigrees and reviewed them in conjunction with so-called historical pedigrees which included most of those summarized by Stevenson and Jennings (1960). Jarvik et al. (1994) concluded that the new pedigrees with defined ascertainment confirmed the existence of nonmendelian transmission characterized by the overtransmission of SHSF from affected fathers to sons. Crow (1991) pointed out that segregation distortion, defined as departure from normal mendelian ratios, does not require that a meiotic process be known to underlie the departure. Thus, the deviation from mendelian expectations seen for SHSF may be termed segregation distortion. Jarvik et al. (1994) claimed that segregation distortion had not been documented for any other human developmental disorder. The segregation distortion, as well as the reduced penetrance and variable expression in this disorder, awaits molecular elucidation.
Cytogenetics
Del Porto et al. (1983) described a boy with microcephaly, ectrodactyly of feet, and facial dysmorphism (beak-like nose, low-set ears) who had del(7)(q11-q22). At least 9 other cases of ectrodactyly with interstitial deletions of 7q have been reported (Tajara et al., 1989; Morey and Higgins, 1990; Roberts et al., 1991; Marinoni et al., 1995; McElveen et al., 1995). The minimal overlapping segment in all these cases was 7q21.2-q21.3. Sharland et al. (1991) reported the case of a boy with tetramelic ectrodactyly who had an exceedingly complex chromosomal rearrangement resulting from 5 breaks in chromosomes 5, 7, and 9: 5q11.2, 5q34, 7q21.2, 7q31.3, and 9q22.1. There was no apparent deletion. Both parents had normal chromosomes. Because of reports of ectrodactyly with chromosomal aberrations involving 7q21, Sharland et al. (1991) proposed that the break at 7q21.2 had disrupted a gene responsible for complete hand ray development. Except for minor facial peculiarities, the boy appeared to be normal in all respects including growth and development. Genuardi et al. (1993) found an apparently balanced translocation, t(2;7)(q21.1;q22.1), in a female patient with bilateral split-hand and right split-foot. SHFD segregated as an autosomal dominant with low penetrance in her family. The translocation was present in 6 of 13 additional relatives investigated, one of whom also had split-hand on the right. Cobben et al. (1995) described a case of typical tetramelic split hand-foot malformation in association with a pericentric inversion of chromosome 7: 46,XY,inv(7)(p22q21.3). The limbs and chromosomes of the parents were normal. Ignatius et al. (1996) reported an adult male with tetramelic ectrodactyly and a complex 6-break chromosomal rearrangement, including a break at 7q21.3. Taken together with data from previously reported cases, the 'critical region' for ectrodactyly appears to be 7q21.1-q22.1. A review of reported SHFD cases with chromosome 7 abnormalities suggested preferential involvement of the feet and of the right side. Surprisingly, 4 out of 8 apparently balanced rearrangements leading to ectrodactyly had 3 (Koiffmann et al., 1993; Naritomi et al., 1993), 5 (Sharland et al., 1991), or 6 (Ignatius et al., 1996) breakpoints.
Marinoni et al. (1995) found deletion of 7q21.2-q22.1 in a patient with split-foot and developmental retardation. Molecular analysis using PCR showed deletion of 3 microsatellite markers, D7S527, D7S479, and D7S554, in the patient's paternal chromosome.
By karyotype analysis of an 18-month-old boy with ectrodactyly of the right foot and profound sensorineural deafness, Haberlandt et al. (2001) identified a de novo interstitial deletion of chromosome 7q21.1-q21.3. Haplotype analysis defined an 8.9- to 17-cM deletion that occurred on the paternal allele and encompassed the critical interval on 7q21.3 previously associated with either SHFM1 or EEC (see EEC1, 129900) syndrome. Haberlandt et al. (2001) suggested that a specific pattern of facial anomalies characterizes patients with aberrations of chromosome 7q21-q22, noting that at least 6 previously published reports described facial dysmorphism similar to that of this patient (see, e.g., Tajara et al., 1989, Sharland et al., 1991, and Marinoni et al., 1995).
Wieland et al. (2004) performed haplotype analysis in a 4-year-old boy with ectrodactyly and deafness and his unaffected, nonconsanguineous parents, and identified a microdeletion at chromosome 7q21.3-q22.1 on the paternal allele. Southern blot analysis localized the deletion breakpoints to between the DNCI1 gene (603772) and marker D7S821 proximally and between the DLX5 gene (600028) and marker D7S618 distally, narrowing the deletion to a 0.9- to 1.8-Mb interval encompassing the DLX5, DLX6 (600030), and DSS1 (601285) genes.
Bernardini et al. (2008) reported a 5-year-old girl with ectrodactyly of the right hand and feet, deafness, craniofacial dysmorphism, cleft palate, tetralogy of Fallot, and psychomotor delay. Karyotype analysis detected a de novo reciprocal interstitial translocation t(7;8)(q21q22;q23q24). FISH and array CGH analysis showed a paracentric inversion of 7q, which interrupted the CUTL1 gene (116896), and a microdeletion of 7q21.13, which included the FZD1 gene (603408). The findings confirmed the locus on 7q identified by Tackels-Horne et al. (2001). Bernardini et al. (2008) suggested that the involvement of band 8q may have contributed to the dysmorphic facial features and heart defect.
Saitsu et al. (2009) studied a 9-year-old Japanese girl with a complex chromosomal rearrangement involving 7q21.3, who had bilateral split-foot malformation as well as micrognathia, full lower lip, strabismus, and bilateral stenosis of the ear canals with a mixed conductive and sensorineural type of hearing loss. Her hands were normal clinically and radiographically. Developmental milestones were delayed, and self-injuries, hyperactivity, and sleep problems were observed from 3 years of age. G-banded karyotype was 46,XX,t(7;15)(q21;q15),t(9;14)(q21;q11.2)dn. Because the patient had SHFM and hearing loss, the authors focused on the breakpoint at 7q21, which did not disrupt any genes and mapped to 38 kb telomeric to the DSS1 gene and 258 kb and 272 kb centromeric to the DLX6 and DLX5 genes, respectively. Microarray analysis followed by cloning revealed a 0.8-Mb deletion located 750 kb telomeric to the translocation breakpoint on 7q21, encompassing part of the potential candidate gene LMTK2 (610989); however, analysis of LMTK2 in 29 Japanese SHFM patients revealed no mutations.
Velinov et al. (2012) described a female patient with a duplication of 719 kb at 7q21.3 (chr7:96,303,736-97,022,335; NCBI36). Clinical evaluation at 2 months showed unilateral syndactyly of fingers 3 and 4 on her right hand. Her right food showed overgrowth and lateral deviation of her great toe with split-foot malformation and absent fifth toe. The left hand and foot were normal, and the patient had no hearing loss. The duplicated region harbored only the DLX5 and DLX6 gene and was confirmed to be a de novo occurrence in the patient.
Rattanasopha et al. (2014) studied a large 4-generation Thai family with SHFM mapping to the SHFM1 locus on chromosome 7q21. The 8 affected individuals manifested a broad spectrum of clinical manifestations, ranging from unilateral cutaneous syndactyly between 2 digits to bilateral split hands and feet. In addition, the proband's father exhibited central polydactyly of his right hand; the authors noted that polydactyly had not been previously reported in SHFM1. Microarray analysis revealed a heterozygous 103-kb deletion (chr7:95,694,099_95,797,866delinsTCATC), encompassing exons 14 to 17 of the DYNC1I1 gene and exons 13 to 18 of the SLC25A13 gene (603859), that was present in all 8 affected members as well as 2 unaffected members of the family (penetrance of 80%). Analysis of the proband's cultured osteoblasts demonstrated complete absence of DLX5 and DLX6 RNA and proteins, rather than the expected 50% decrease. Allelic expression studies in cultured osteoblasts of an unaffected individual showed that DSS1, DLX6, and DLX5 expressed only paternal alleles, indicating that these genes were maternally imprinted in osteoblasts. Rattanasopha et al. (2014) concluded that SHFM1 in this family was caused by heterozygous paternal deletion of enhancers of the osteoblast-specific maternally imprinted DLX6 and DLX5 genes, resulting in absence of their proteins.
Mapping
To map the SHFD1 locus, Scherer et al. (1994) constructed somatic cell hybrid lines from cytogenetically abnormal individuals with split-hand/foot deformity. Molecular analysis resulted in the localization of 93 DNA markers to 1 of 10 intervals surrounding the SHFD1 locus. The translocation breakpoints in 4 SHFD patients were encompassed by the smallest region of overlap among the SHFD-associated deletions. The order of DNA markers in the critical region was defined as PON (168820)--D7S812--SHFD1--D7S811--ASNS (108370). One DNA marker, D7S811, detected altered restriction enzyme fragments in 3 patients with translocations when examined by pulsed field gel electrophoresis (PFGE).
Scherer et al. (1994) constructed a physical map consisting of overlapping YAC clones for the 7q21.3-q22.1 region to which the SHFM1 gene had been mapped. Somatic cell hybrid and fluorescence in situ hybridization analyses defined split-hand/foot-associated chromosomal rearrangements in 12 patients. A critical interval of 1.5 Mb was established by analyses of 5 patients with deletions. Translocation or inversion breakpoints found in 6 patients were mapped within 700 kb of each other in the critical region. Scherer et al. (1994) noted that 8 of the patients analyzed had syndromic ectrodactyly (SE). They reviewed the clinical and genetic features of 9 types of syndromic ectrodactyly: EEC syndrome (129900), LADD syndrome (149730), ADULT syndrome (103285), EEC syndrome without cleft lip/palate (129810), Fontaine syndrome (183700), acral-renal-mandibular syndrome (200980), ECP syndrome (129830), ectrodactyly and hearing loss (220600), and Karsch-Neugebauer syndrome (183800). They also demonstrated that DLX5 (600028), a member of the distal-less homeobox gene family, and another DLX gene (DLX6; 600030) are located in the SHFM1 critical interval and thus are candidate genes.
In 2 affected families with SHFM and deafness, Tackels-Horne et al. (2001) found that the disorder was linked to markers on chromosome 7q21, the region of the SHFM1 locus, with a combined maximum lod score of 4.37 at theta = 0.0 for D7S527, at 80% penetrance.
Wieland et al. (2004) described a 4-year-old boy with SHFM1 and Mondini dysplasia who was found to have a 0.9- to 11.8-Mb deletion on 7q21.3. The boy had ectrodactyly of the left hand and both feet and syndactyly of the third and fourth digits of the right hand. He had dysplastic ears, retrognathia, and profound deafness with Mondini dysplasia. Haplotype analysis of the SHFM1 critical region showed loss of the paternal markers D7S821, D7S491, and D7S624. Quantitative Southern blot analysis showed loss of one copy each of the DLX5 and DLX6 genes.
Molecular Genetics
Roberts and Tabin (1994) reviewed the events of early limb development, which are similar for all tetrapods in that they define patterning in both the proximal/distal, i.e., humerus to digits, and the anterior/posterior, i.e., first to fifth digits, orientations. Most of the now classic embryologic experiments that defined limb patterning were performed in the chick. Roberts and Tabin (1994) listed 7 candidate genes for human limb-development defects.
Duijf et al. (2003) reviewed the molecular genetics of split-hand/foot malformation in man and mouse.
In a 31-year-old Chinese woman with SHFM, Wang et al. (2014) performed whole-exome sequencing followed by screening of 17 candidate genes in the 6 known SHFM loci and identified heterozygosity for a missense mutation in the DLX5 gene (Q186H; 600028.0002); no coding variants were detected in any other SHFM-associated genes. Direct DNA sequencing confirmed the mutation in the proband; the mutation was not found in 3 unaffected relatives, including her parents, or in 200 ethnically matched controls. Noting that homozygosity for a nearby missense mutation in the DLX5 gene (Q178P; 600028.0001) had been identified by Shamseldin et al. (2012) in a consanguineous Yemeni family segregating recessive SHFM with hearing impairment (SHFM1D; 220600), Wang et al. (2014) hypothesized that affected members of the Chinese family might harbor another mutation in the regulatory element.
In the probands from 2 unrelated Polish families with isolated SHFM, Sowinska-Seidler et al. (2014) sequenced the TP63 (603273), WNT10B (601906), and DLX5 genes and identified heterozygosity for the same nonsense mutation in the DLX5 gene in both probands (E39X; 600028.0003); no mutations were detected in TP63 or WNT10B. In the first family, the proband inherited the mutation from his clinically unaffected mother. In the second family, the mutation was also identified in the proband's affected son and an affected nephew, as well as in the nephew's apparently unaffected father (brother of the proband) and sister; the mutation was not detected in 2 additional unaffected family members. Because family members refused consent to an x-ray evaluation, a mild presentation of SHFM could not be excluded in the clinically unaffected carriers of the nonsense mutation, which was not found in 190 ethnically matched controls or in 6,500 controls in the Exome Variant Server database. Screening of the DLX6 gene (600030) in both probands revealed no pathogenic variants, and analysis of limb-specific enhancer elements in exons 15 and 17 of DYNC1I1 (603772) excluded regulatory point mutations or deletions that might affect DLX5 expression. In addition, common SHFM-associated copy number variants (CNVs) were excluded by array CGH. Quantitative real-time PCR determined the copy number of all 3 exons of the DLX5 gene, suggesting that a second mutation in DLX5 was highly unlikely.
Heterogeneity
In a literature review including 48 SHFM1 patients, 40 SHFM3 patients, 45 SHFM4 patients, and 20 SHFM5 patients, Elliott et al. (2005) found that preaxial involvement of the upper extremities was a significant locus discriminator, most commonly seen in patients with SHFM3 (60% of patients). Preaxial involvement occurred in approximately 40% of SHFM5, 4% of SHFM4, and 2% of SHFM1 patients. In further analysis of the previously studied SHFM patients, Elliott and Evans (2006) identified phenotypic patterns involving mental retardation, ectodermal and craniofacial findings, and orofacial clefting associated with the mapped genetic SHFM loci.
Animal Model
Johnson et al. (1995) suggested that a potential model for SHFM may be the mouse dactylaplasia mutation (Dac), which is also characterized by missing central digits and other distal limb malformations. They mapped the Dac gene to the distal end of mouse chromosome 19 by backcross segregation analysis. Homozygotes were shown to be viable and fertile, but had a more severe limb malformation (only a single remaining digit) than heterozygotes. They found, furthermore, that expression of the abnormal limb phenotypes of Dac/Dac+ and Dac/Dac mice depends on homozygosity for a recessive allele of another unlinked gene, symbolized mdac, that is polymorphic among inbred mouse strains. They mapped mdac to the middle of mouse chromosome 13 by segregation analysis of both recombinant inbred strains and backcross progeny. Judging from conserved synteny, the human equivalent of Dac would most likely be found in the 10q23-q25 region, and the most likely map location for the human equivalent of mdac is either 5q or 9q. Johnson et al. (1995) suggested that the anomalous inheritance patterns of SHFM which sometimes appears to be recessive and often skips generations and displays disturbed segregation ratios might be the consequence of a polymorphic epistatic gene such as mdac.
Crackower et al. (1998) showed that in heterozygous Dac embryos, the apical ectodermal ridge (AER), a critical signaling center that directs the outgrowth and patterning of the developing limb, is morphologically normal at E10.5, but, by E11.5, its central segment degenerates, leaving the anterior and posterior segments intact. This suggested that localized failure of ridge maintenance activity is the fundamental developmental defect in Dac and, by inference, in SHFM.
Merlo et al. (2002) inactivated the Dlx5 (600028) and Dlx6 (600030) genes in mice. No expression of either gene was detected, but expression of the Dss1 gene (601285) was unaffected. The Dlx5/Dlx6-null mice exhibited bilateral ectrodactyly of the posterior limbs and severe craniofacial abnormalities characterized by apparent homeotic transformation of the entire mandibular arch. Merlo et al. (2002) stated that the hindlimb defect was strongly reminiscent of SHFM1. They noted that the specific craniofacial lesion in the mutant mice has never been observed in patients, but that an etiologic association has been established between SHFM1 and syndromic ectrodactylies in which cleft lib and/or palate, hearing loss, and genitourinary anomalies are often present.
Nomenclature
A malformation is a primary structural abnormality, whereas a deformity is a secondary structural abnormality, e.g., clubfoot that develops in association with spina bifida. Since the anomaly discussed in this entry is a malformation and not a deformity, Palmer et al. (1994) proposed that it should be referred to as split-hand/split-foot malformation and that the gene should be symbolized SHSF1. According to this system, the second autosomal dominant (SHFM3; 246560) and phenotypically indistinguishable form of the disorder would be designated SHSF2, and the X-linked form (SHFM2; 313350) would be designated SHSF3. The nomenclature committee determined in 1994 that split-hand/foot malformation should be symbolized SHFM.
History
Wildervanck (1963) observed the association of split-hand/foot malformation with sensorineural hearing loss in 2 sons of unrelated parents. Birch-Jensen (1949) mentioned a sporadic case of the association, and Fraser (1976) reported a brother and sister with this combination.
INHERITANCE \- Autosomal dominant SKELETAL Hands \- Ectrodactyly \- Split hand \- Aplasia of single digital ray \- Hypoplasia, fusion, and contractures of post-axial fingers \- Triphalangeal thumbs Feet \- Ectrodactyly \- Split foot \- Broad hallux \- Clinodactyly MISCELLANEOUS \- Variable expressivity \- Incomplete penetrance \- Contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1 ( 601285 ), DLX5 ( 600028 ), and DLX6 ( 600030 ) genes and possible regulatory elements in the region \- One family reported with mutation in a heterozygous mutation in DLX5 (last curated October 2014) MOLECULAR BASIS \- Caused by mutation in the distal-less homeobox-5 gene (DLX5, 600028.0002 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
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SPLIT-HAND/FOOT MALFORMATION 1
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c0265554
| 27,147 |
omim
|
https://www.omim.org/entry/183600
| 2019-09-22T16:34:34 |
{"doid": ["0090021"], "mesh": ["C574275"], "omim": ["183600"], "orphanet": ["2440"], "synonyms": ["Alternative titles", "SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS", "SPLIT-HAND/FOOT DEFORMITY 1", "SPLIT-HAND DEFORMITY", "ECTRODACTYLY"]}
|
Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Thoracomelic dysplasia
|
c1848863
| 27,148 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1803
| 2021-01-23T17:34:51 |
{"gard": ["10612"], "mesh": ["C564773"], "omim": ["273740"], "umls": ["C1848863", "C2931227"], "icd-10": ["Q77.2"], "synonyms": ["Rivera-Perez-Salas syndrome", "Thoracolimb dysplasia, Rivera type"]}
|
Niemann et al. (1976) described 4 sibs and a fifth unrelated patient with a disorder characterized clinically by quadriplegia, amyotrophy, peripheral neuropathy, severe mental retardation, subluxation of the hips and osteoporosis, with multiple spontaneous fractures. Death occurred between ages 2 and 34 months. Autopsy in 3 showed multiple system involvement of the spinal cord and cerebellum, coarse cerebral gyri and marked reduction in volume of white matter. No precisely similar cases were found in the literature.
Skel \- Hip subluxation \- Osteoporosis \- Multiple spontaneous fractures Misc \- Death under age 3 years Neuro \- Quadriplegia \- Amyotrophy \- Peripheral neuropathy \- Severe mental retardation Lab \- Multiple system involvement of the spinal cord and cerebellum, coarse cerebral gyri and marked reduction in volume of white matter Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY
|
c1850465
| 27,149 |
omim
|
https://www.omim.org/entry/256720
| 2019-09-22T16:24:20 |
{"mesh": ["C564954"], "omim": ["256720"]}
|
Dense deposit disease, a histological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Dense deposit disease
|
c0268743
| 27,150 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93571
| 2021-01-23T18:47:58 |
{"gard": ["8555"], "mesh": ["D015432"], "omim": ["609814"], "umls": ["C0268743"], "icd-10": ["N04.6"], "synonyms": ["Membranoproliferative glomerulonephritis type 2"]}
|
A thunderstorm in Tamworth, New South Wales, Australia
Thunderstorm asthma is the triggering of an asthma attack by environmental conditions directly caused by a local thunderstorm. It has been proposed that during a thunderstorm, pollen grains can absorb moisture and then burst into much smaller fragments with these fragments being easily dispersed by wind.[1][2] While larger pollen grains are usually filtered by hairs in the nose, the smaller pollen fragments are able to pass through and enter the lungs, triggering the asthma attack.[3][4][5][6]
## Contents
* 1 History
* 2 Statistics
* 3 Prevention
* 4 Significant events
* 5 References
## History[edit]
There have been events where thunderstorms have caused asthma attacks across cities such that emergency services and hospitals have been overwhelmed. The phenomenon has been recognised for a significant period of time with a study of an event in Birmingham noting the correlation between thunderstorms and hospitalisations.[7] This fact that these were not isolated events and were part of an ongoing pattern of events is clearly documented in the review "Thunderstorm asthma, an overview of the evidence base".[8] A significant impetus in the study of the phenomenon occurred after an event in 2016 in Melbourne, Australia. Since then there have been further reports of widespread thunderstorm asthma in Wagga Wagga, Australia; London, England; Naples, Italy;[9] Atlanta, United States;[10] and Ahvaz, Iran.[11] The outbreak in Melbourne, in November 2016, that overwhelmed the ambulance system and some local hospitals, resulted in at least nine deaths.[12][13][14][15][16] There was a similar incident in Kuwait in early December, 2016 with at least 5 deaths and many admissions to the ICU.[17][18]
## Statistics[edit]
Many of those affected during a thunderstorm asthma outbreak may have never experienced an asthma attack before.[19]
It has been found 95% of those that were affected by thunderstorm asthma had a history of hayfever, and 96% of those people had tested positive to grass pollen allergies, particularly rye grass.[20] A rye grass pollen grain can hold up to 700 tiny starch granules, measuring 0.6 to 2.5 μm, small enough to reach the lower airways in the lung.[21][22][23]
## Prevention[edit]
Patients with a history of grass allergies should be tested for asthma and treated for the grass allergies and asthma if also present. Patients with known asthma should be treated and counseled on the importance of adherence to preventative medication protocols.[24] Preventative treatment found useful for severe asthma includes Allergen immunotherapy (AIT) particularly sublingual immunotherapy (SLIT).[25]
## Significant events[edit]
* 6 July 1983 (1983-07-06) – 7 July 1983 (1983-07-07): Birmingham, England
* 8 November 1987 (1987-11-08): Melbourne, Australia
* 29 November 1989 (1989-11-29) – 30 November 1989 (1989-11-30): Melbourne, Australia
* 24 July 1994 (1994-07-24) – 25 July 1994 (1994-07-25): London, England
* 30 October 1997 (1997-10-30): Wagga Wagga, Australia
* 4 June 2004 (2004-06-04): Naples, Italy
* 25 November 2010 (2010-11-25): Melbourne, Australia
* 2 November 2013 (2013-11-02): Ahvaz, Iran
* 21 November 2016 (2016-11-21): Melbourne, Australia
* 1 December 2016 (2016-12-01): Kuwait and Riyadh, Saudi Arabia
## References[edit]
1. ^ editor, Ian Sample Science (24 November 2016). "Thunderstorm asthma: how seasonal weather can affect human health" – via The Guardian.CS1 maint: extra text: authors list (link)
2. ^ pubmeddev. "thunderstorm asthma - PubMed - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2019-08-27.
3. ^ Suphioglu C. Thunderstorm Asthma Due to Grass Pollen. Int Arch Allergy Immunol 1998;116:253–260. doi:10.1159/000023953
4. ^ Taylor, P.E. & Jonsson, H. Thunderstorm asthma. Curr Allergy Asthma Rep (2004) 4: 409. doi:10.1007/s11882-004-0092-3
5. ^ Dabrera G, Murray V, Emberlin J, Ayres JG, Collier C, Clewlow Y, Sachon P. Thunderstorm asthma: an overview of the evidence base and implications for public health advice. QJM. 2013 Mar;106(3):207-17. doi: 10.1093/qjmed/hcs234. PMID 23275386
6. ^ D'Amato G, Vitale C, D'Amato M, Cecchi L, Liccardi G, Molino A, Vatrella A, Sanduzzi A, Maesano C, Annesi-Maesano I. Thunderstorm-related asthma: what happens and why. Clin Exp Allergy. 2016 Mar;46(3):390-6. doi: 10.1111/cea.12709. PMID 26765082
7. ^ Packe, G. E.; Ayres, JonG. (1985-07-27). "ASTHMA OUTBREAK DURING A THUNDERSTORM". The Lancet. Originally published as Volume 2, Issue 8448. 326 (8448): 199–204. doi:10.1016/S0140-6736(85)91510-7. ISSN 0140-6736.
8. ^ Dabrera, G.; Murray, V.; Emberlin, J.; Ayres, J. G.; Collier, C.; Clewlow, Y.; Sachon, P. (2013-03-01). "Thunderstorm asthma: an overview of the evidence base and implications for public health advice". QJM: An International Journal of Medicine. 106 (3): 207–217. doi:10.1093/qjmed/hcs234. ISSN 1460-2725.
9. ^ D'Amato, G., Liccardi, G. and Frenguelli, G. (2007), Thunderstorm-asthma and pollen allergy. Allergy, 62: 11–16. doi:10.1111/j.1398-9995.2006.01271.x
10. ^ Grundstein A, Sarnat SE, Klein M, Shepherd M, Naeher L, Mote T, Tolbert P. Thunderstorm associated asthma in Atlanta, Georgia. Thorax. 2008 Jul;63(7):659-60. doi: 10.1136/thx.2007.092882. PMID 18587040
11. ^ Forouzan A, Masoumi K, Haddadzadeh Shoushtari M, Idani E, Tirandaz F, Feli M, Assarehzadegan MA, Asgari Darian A. An overview of thunderstorm-associated asthma outbreak in southwest of Iran. J Environ Public Health. 2014;2014:504017. doi: 10.1155/2014/504017. PMID 25093023
12. ^ Wright, Patrick (24 November 2016). "'Thunderstorm asthma': Three people remain critical, at least four dead". ABC Online. Retrieved 24 November 2016.
13. ^ "'Thunderstorm asthma': Four people now believed dead, could have been more, minister says" ABC News, 23 November 2016. Accessed 23 November 2016.
14. ^ "Sixth person dies from thunderstorm asthma emergency". ABC News. 2016-11-27. Retrieved 2016-11-27.
15. ^ "'Thunderstorm asthma' deaths in Melbourne rise to nine". BBC Online. 29 November 2016. Retrieved 29 November 2016.
16. ^ "Thunderstorm asthma: Ninth death in Victoria after freak weather event in 2016". ABC News. 25 January 2017. Retrieved 25 January 2017.
17. ^ Five expats die of asthma as rain lashes Kuwait. Gulf Digital News, 2016
18. ^ "KUNA: Five people die in 2 days due to asthma attacks - health official". kuna.net.kw. December 2, 2016. Retrieved 8 December 2016.
19. ^ Reed Alexander & James Griffiths (November 23, 2016). "'Thunder asthma:' Deadly illness caused by freak weather". CNN. Retrieved November 23, 2016.CS1 maint: uses authors parameter (link)
20. ^ "What is thunderstorm asthma? - ABC News (Australian Broadcasting Corporation)". Abc.net.au. Retrieved 2016-11-23.
21. ^ Peter Dockrill (2015-08-21). "Thunderstorm asthma is a real thing that's killed 2 people in Australia". ScienceAlert.com. Retrieved 2016-11-23.
22. ^ D'Amato G, Annesi Maesano I, Molino A, Vitale C, D'Amato M. Thunderstorm-related asthma attacks.J Allergy Clin Immunol. 2017 Jun;139(6):1786-1787. doi: 10.1016/j.jaci.2017.03.003. PMID 28342913
23. ^ "Thunderstorm asthma". ASCIA - Australasian Society of Clinical Immunology and Allergy. 2016. Retrieved 2017-12-12.
24. ^ Harun, Nur-Shirin; Lachapelle, Philippe; Douglass, Jo (2019). "Thunderstorm-triggered asthma: what we know so far". Journal of Asthma and Allergy. 12: 101–108. doi:10.2147/JAA.S175155. ISSN 1178-6965. PMC 6512777. PMID 31190900.
25. ^ Lombardi, Carlo; Savi, Eleonora; Ridolo, Erminia; Passalacqua, Giovanni; Canonica, Giorgio Walter (2017). "Is allergic sensitization relevant in severe asthma? Which allergens may be culprit?". The World Allergy Organization Journal. 10 (1): 2. doi:10.1186/s40413-016-0138-8. ISSN 1939-4551. PMC 5219672. PMID 28101292.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Thunderstorm asthma
|
None
| 27,151 |
wikipedia
|
https://en.wikipedia.org/wiki/Thunderstorm_asthma
| 2021-01-18T18:33:33 |
{"wikidata": ["Q27910228"]}
|
Rocio viral encephalitis is an epidemic flaviviral disease of humans first observed in São Paulo State, Brazil, in 1975.[1] Low-level enzootic transmission is likely continuing in the epidemic zone, and with increased deforestation and population expansion, additional epidemics caused by Rocio virus are highly probable.[2] If migratory species of birds are, or become involved in, the virus transmission cycle, the competency of a wide variety of mosquito species for transmitting Rocio virus experimentally suggest that the virus may become more widely distributed.[2] The encephalitis outbreak in the western hemisphere caused by West Nile virus, a related flavivirus, highlights the potential for arboviruses to cause severe problems far from their source enzootic foci.[2]
The causative Rocio virus belongs to the genus Flavivirus (the same genus as the Zika virus) in family Flaviviridae and is closely related serologically to Ilhéus, St. Louis encephalitis, Japanese encephalitis and Murray Valley encephalitis viruses.[2]
## Contents
* 1 Outbreaks
* 2 Reservoirs and vectors
* 3 References
* 4 External Links
## Outbreaks[edit]
During 1975 and 1976, Rocio virus was responsible for several epidemics of meningoencephalitis in coastal communities in southern São Paulo, Brazil.[3] The outbreaks affected over 1,000 people and killed about 10% of those infected, but apparently responded well to treatment for viral encephalitides.[4][5] The disease progresses rapidly after onset, with patients dying within 5 days of symptoms first appearing. The disease first presents with fever, headache, vomiting, and conjunctivitis, then progresses to neurological symptoms (confusion, disorientation, etc.) and muscle weakness; about one-third of cases enter a coma, and a third of those patients die,[4][5] although supportive care such as intensive nursing and symptomatic treatment might reduce the case fatality rate to 4%.[6] Survivors show neurological and psychological after-effects (sequelae) in about 20% of cases.[4][5]
## Reservoirs and vectors[edit]
Neither the epidemic nor the epizootic cycles of Rocio virus have been defined, but field and laboratory studies indicate the probable involvement of birds as a virus reservoir and mosquitoes as vectors.[2]
About 25% of wild birds in the epidemic zone tested during the time of the outbreaks were found to have antibodies to flaviviruses, with Rocio virus the most reactive antigen.[2] Strains of Rocio virus were isolated from the blood of a rufous-collared sparrow, Zonotrichia capensis.[2] Rocio virus was also isolated from sentinel mice exposed in a suspended cage, suggesting that a flying arthropod was the probable vector. Experimental studies with Colorado House sparrows, Passer domesticus, have indicated that the population tested was not a good amplification host for Rocio virus.[2]
Psorophora ferox was the only mosquito species directly implicated in transmission through detection of virus in specimens collected at the outbreak site, but species of Culex (Melanoconion), Coquillettidia chrysonotum, Mansonia indubitans, Ochlerotatus scapularis, Ochlerotatus serratus, and other mosquitoes in Tribes Culicini, Anophelini and Sabethini were also present in those collections.[2] Studies with mosquitoes from the epidemic zone after the outbreak showed that Psorophora ferox and Ochlerotatus scapularis could be classified as potential vectors, but Ochlerotatus serratus was relatively insusceptible.[2][7] Field investigations in the late 1970s and 1980s showed that Ochlerotatus scapularis, Ochlerotatus serratus and species of Culex (Melanoconion) were the predominant mosquitoes in the epidemic zone, and that Ochlerotatus scapularis was the most common and abundant mosquito in human settlements and human-made environments.[2] Outside the epidemic zone, laboratory studies have shown that Culex tarsalis mosquitoes from Arizona and Culex pipiens pipiens mosquitoes from Illinois were relatively efficient experimental vectors; Tennessee Culex pipiens subspecies and Argentina Culex pipiens quinquefasciatus were moderately efficient experimental vectors; Louisiana Psorophora ferox, and Culex nigripalpus and Culex (Melanoconion) opisthopus from Florida were relatively inefficient experimental vectors.[1] Psorophora ferox and Aedes scapularis were shown to be susceptible to per os infection with Rocio virus and could transmit the virus by bite following an incubation period, whereas infection rates in Ochlerotatus serratus did not exceed 36% and an ID50 could not be calculated for this species so it is unlikely to be an epidemiologically important vector of Rocio virus.[1]
## References[edit]
1. ^ a b c Mitchell, Carl J.; Monath, Thomas P.; Cropp, C. Bruce (1981). "Experimental Transmission of Rocio Virus by Mosquitoes". American Journal of Tropical Medicine and Hygiene. 30 (2): 465–472. doi:10.4269/ajtmh.1981.30.465. PMID 6112884.
2. ^ a b c d e f g h i j k Mitchell, Carl J. (2001). "Rocio encephalitis". In Service, M. W. (ed.). Encyclopedia of Arthropod-transmitted Infections of Man and Domesticated Animals. CABI. pp. 434–7. ISBN 978-1-84593-316-6.
3. ^ Mitchell, Carl J.; Forattini, Oswaldo Paulo; Miller, Barry R. (1986). "Ensaios sobre a capacidade vetora para o vírus Rocio, de três espécies de culicídeos da zona epidêmica no Brasil". Revista de Saúde Pública. 20 (3): 171–7. doi:10.1590/S0034-89101986000300001. PMID 2880387.
4. ^ a b c Coimbra, Terezinha Lisieux Moraes; Santos, Raimundo N.; Petrella, Selma; Nagasse-Sugahara, Teresa Keico; Castrignano, Silvana Beres; Santos, Cecília L. Simões (2008). "Caracterização molecular de duas cepas do flavivírus Rocio, isoladas durante a epidemia de encefalite no Estado de São Paulo, Brasil e desenvolvimento do teste one-step RT-PCR para diagnóstico". Revista do Instituto de Medicina Tropical de São Paulo. 50 (2): 89–94. doi:10.1590/S0036-46652008000200005. PMID 18488087.
5. ^ a b c Domingues, Renan Barros; Teixeira, Antônio Lúcio (2009). "Management of acute viral encephalitis in Brazil". Braz J Infect Dis. 13 (6): 433–9. doi:10.1590/S1413-86702009000600009. PMID 20464335.
6. ^ O. Souza Lopes, Francisco P. Pinheiro, and L. B. Iversson: "Rocio Viral Encephalitis", in: Handbook of Zoonoses, Second Edition, Section B: Viral Zoonoses, George W. Beran (ed.-in-ch.), CRC Press, 1994, pp. 205–209.
7. ^ Leake, Colin J. (1998). "Ch. 34: Mosquito-Borne Arboviruses". In Palmer, S. R.; Lord Soulsby; Simpson, D. I. H. (eds.). Zoonoses; Biology, Clinical Practice, and Public Health Control. Oxford University Press. pp. 401–413, 403, 408, 409, 411.
## External Links[edit]
* "Rocio virus". NCBI Taxonomy Browser. 64315.
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[et al.]: et alia (and others)
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*[transl.]: translation
*[α2δ]: alpha2delta subunit
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|
Rocio viral encephalitis
|
None
| 27,152 |
wikipedia
|
https://en.wikipedia.org/wiki/Rocio_viral_encephalitis
| 2021-01-18T18:46:54 |
{"wikidata": ["Q18924547"]}
|
Abortion in South Sudan is a criminal offense unless done in good faith for the purpose of saving the life of the mother.[1]
## References[edit]
1. ^ "ACTS SUPPLEMENT No. 1" (PDF). The Southern Sudan Gazette No. 1. Ministry Legal Affairs and Constitutional Development, Government of South Sudan. February 10, 2009.
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*[c.]: circa
*[AA]: Adrenergic agonist
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*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
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*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
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*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Abortion in South Sudan
|
None
| 27,153 |
wikipedia
|
https://en.wikipedia.org/wiki/Abortion_in_South_Sudan
| 2021-01-18T18:57:51 |
{"wikidata": ["Q96371406"]}
|
Poikiloderma of Civatte
SpecialtyDermatology
Poikiloderma of Civatte[1] is a cutaneous condition and refers to reticulated red to red-brown skin patches with telangiectasias.[2] It is identifiable as a reddish-brown discoloration on the side of the neck, usually on both sides. It is more common in lighter-skinned individuals, in females rather than in males and more often affects middle-aged to elderly women. This disease is basically a change of the skin due to dilation of the blood vessels in the neck.[citation needed] "Civatte" was the French dermatologist who first identified it in the 1920s.[3]
## See also[edit]
* Cutis rhomboidalis nuchae
* List of cutaneous conditions
* Poikiloderma
* Poikiloderma vasculare atrophicans
## References[edit]
1. ^ Hohenleutner, Ulrich (1990). "Traditional Tattooing of the Gingiva: Successful Treatment with the Argon Laser". Archives of Dermatology. 126 (4): 547–8. doi:10.1001/archderm.1990.01670280133037. PMID 2322008.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.[page needed]
3. ^ Poikiloderma of Civatte at eMedicine
## External links[edit]
Classification
D
* ICD-10: L57.3
* DiseasesDB: 33209
* v
* t
* e
Radiation-related disorders / Photodermatoses
Ultraviolet/ionizing
* Sunburn
* Phytophotodermatitis
* Solar urticaria
* Polymorphous light eruption
* Benign summer light eruption
* Juvenile spring eruption
* Acne aestivalis
* Hydroa vacciniforme
* Solar erythema
Non-ionizing
Actinic rays
* Actinic keratosis
* Atrophic actinic keratosis
* Hyperkeratotic actinic keratosis
* Lichenoid actinic keratosis
* Pigmented actinic keratosis
* Actinic cheilitis
* Actinic granuloma
* Actinic prurigo
* Chronic actinic dermatitis
Infrared/heat
* Erythema ab igne (Kangri ulcer
* Kairo cancer
* Kang cancer
* Peat fire cancer)
* Cutis rhomboidalis nuchae
* Poikiloderma of Civatte
Other
* Radiation dermatitis
* Acute
* Chronic radiodermatitis)
* Favre–Racouchot syndrome
* Photoaging
* Photosensitivity with HIV infection
* Phototoxic tar dermatitis
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Poikiloderma of Civatte
|
c0263574
| 27,154 |
wikipedia
|
https://en.wikipedia.org/wiki/Poikiloderma_of_Civatte
| 2021-01-18T18:48:17 |
{"icd-10": ["L57.3"], "wikidata": ["Q7207846"]}
|
A number sign (#) is used with this entry because of evidence that spermatogenic failure-8 (SPGF8) is caused by heterozygous mutation in the NR5A1 gene (184757) on chromosome 9q33.
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Molecular Genetics
Bashamboo et al. (2010) analyzed the candidate gene NR5A1 in 315 men with idiopathic spermatogenic failure and identified heterozygous missense mutations in 7 of them (see, e.g., 184757.0016-184757.0018). The authors noted that except for 1 mutation-positive patient who had moderate oligozoospermia, NR5A1 mutations were associated with severe spermatogenic failure; no mutations were found in men with mild oligozoospermia (sperm counts of 10 to 20 x 10(6)/ml).
INHERITANCE \- Autosomal dominant GENITOURINARY Internal Genitalia (Male) \- Azoospermia \- Cryptozoospermia \- Severe oligospermia \- Moderate oligospermia (rare) \- Sperm counts less than 1 x 10(6) per mL (in most patients) MOLECULAR BASIS \- Caused by mutation in the nuclear receptor subfamily 5, group A, member 1 gene (NR5A1, 184757.0016 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
SPERMATOGENIC FAILURE 8
|
c3151406
| 27,155 |
omim
|
https://www.omim.org/entry/613957
| 2019-09-22T15:56:58 |
{"doid": ["0070169"], "omim": ["613957"], "orphanet": ["399805"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that Treacher Collins syndrome-2 (TSC2) is caused by heterozygous mutation in the POLR1D gene (613715) on chromosome 13q12. One POLR1D mutation has been reported that, in homozygosity only, results in TSC2.
Description
Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).
For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (154500).
Clinical Features
Vincent et al. (2016) reported the clinical features of the 7 patients they identified with POLR1D mutations causing TCS2. Six of the 7 had downward slanting palpebral fissures and/or malar hypoplasia, 5 had conductive deafness, and all 7 had mandibular hypoplasia. Between 40% and 60% of this small group had atresia of the external ear canal, coloboma of the lower eyelid, facial asymmetry, or projection of scalp hair on the lateral cheek. One in 6 patients examined had cleft palate, and 1 in 6 had a spinal malformation. None had any of the rare features reported in TCS1. Whether this was an effect of sample size or was due to the molecular basis was unknown.
Inheritance
Treacher Collins syndrome-2 is an autosomal dominant disorder (Dauwerse et al., 2011).
Schaefer et al. (2014) reported 2 unrelated consanguineous Turkish families in which Treacher Collins syndrome-2 was inherited in an autosomal recessive pattern.
Molecular Genetics
In a 3-year-old boy with Treacher Collins syndrome who was negative for mutation in the TCOF1 gene (606847), Dauwerse et al. (2011) performed genomewide copy number analysis and identified a 156-kb de novo deletion at chromosome 13q12.2 that encompassed the entire POLR1D gene (613715) and exon 1 of the LNX2 gene (609733). Sequence analysis of POLR1D and LNX2 in 10 additional Treacher Collins patients who were negative for mutations in TCOF1 revealed a boy who was heterozygous for a nonsense mutation in POLR1D (R87X; 613715.0001). Analysis of POLR1D in a further 242 individuals with typical TCS or with clinical findings in the TCS phenotypic spectrum who were negative for TCOF1 mutations yielded 10 heterozygous nonsense mutations and 7 heterozygous missense mutations in 20 index cases (see, e.g., 613715.0002-613715.0006).
Schaefer et al. (2014) reported 4 affected children from 2 unrelated consanguineous families with mild Treacher Collins syndrome (TCS2; 613717) who shared the same homozygous missense mutation in the POLR1D gene (L55V; 613715.0007). Both sets of unaffected parents and the unaffected sister of the first proband were heterozygous for the mutation. functional analysis of TCOF1 by real-time quantitative RT-PCR demonstrated a 50% reduction in transcripts, compatible with the hypothesis that this mutation impairs RNA polymerase and results in a lower amount of mature dimeric ribosomes.
INHERITANCE \- Autosomal dominant \- Autosomal recessive HEAD & NECK Face \- Zygomatic complex hypoplasia \- Mandibular hypoplasia Ears \- Microtia \- Hearing loss, conductive Eyes \- Downslanting palpebral fissures \- Coloboma, lower eyelid Nose \- Choanal stenosis \- Choanal atresia Mouth \- Cleft palate NEUROLOGIC Central Nervous System \- Motor development delayed (in some patients) \- Speech development delayed (in some patients) MISCELLANEOUS \- Four patients from two unrelated consanguineous families with homozygous mutations have been reported MOLECULAR BASIS \- Caused by mutation in the polymerase I, RNA, subunit D gene (POLR1D, 613715.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
TREACHER COLLINS SYNDROME 2
|
c0242387
| 27,156 |
omim
|
https://www.omim.org/entry/613717
| 2019-09-22T15:57:47 |
{"doid": ["2908"], "mesh": ["D008342"], "omim": ["613717"], "orphanet": ["861"], "genereviews": ["NBK1532"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Headache attributed to a substance or its withdrawal" – news · newspapers · books · scholar · JSTOR (February 2009) (Learn how and when to remove this template message)
Headache attributed to a substance or its withdrawal
SpecialtyNeurology
Headaches can be attributed to many different substances. Some of these include alcohol, NO, carbon monoxide poisoning, cocaine, caffeine and monosodium glutamate. Chronic use of certain medications used to treat headaches can also start causing headaches, known as medication overuse headaches. Headaches may also be a symptom of medication withdrawal.
## Contents
* 1 Classification
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Classification[edit]
These headaches have been further sub classified by the ICHD2[1] into
* Headaches induced by acute substance use or exposure
* Medication overuse headaches (MOH)
* Headaches attributed to chronic medication use
* Headaches attributed to substance withdrawal
## Causes[edit]
A number of different causes contribute to this class of headache. Several common chemicals may be the culprit. Nitrite compounds dilate blood vessels, causing dull and pounding headaches with repeat exposure. Nitrite is found in dynamite, heart medicine and it is a chemical used to preserve meat (ergo these being known as "nitrite" or "hot dog" headaches).[2] Eating foods prepared with monosodium glutamate (MSG) may thus result in headache. Acetaldehyde from alcohol may also cause a headache either acutely or after a number of hours (hangover).
Poisons, like carbon tetrachloride found in insecticides and lead can also cause headaches with repeated exposure. Ingesting lead paint or having contact with lead batteries can cause headaches, and so can exposure to materials that contain chemical solvents, like benzene, which are found in turpentine, spray adhesives, rubber cement, and inks. Headaches are also a symptom of carbon monoxide poisoning.
Drugs such as amphetamines can cause headaches as a side effect. Another type of drug-related headache occurs during withdrawal from long-term therapy with the antimigraine drug ergotamine tartrate. This is more commonly known as rebound headache, although some sources use the term interchangeably.
## Diagnosis[edit]
Headaches due to environmental causes are usually diagnosed by taking an exposure history.
## Treatment[edit]
These headaches are treated by determining the cause of the headache and treating or removing this cause
## References[edit]
1. ^ "216.25.100.131" (PDF). the Headache Classification Subcommittee of the International Headache Society. Archived from the original (PDF) on 2004-06-13.
2. ^ Symptom to Diagnosis: An Evidence Based Guide, (Amazon Kindle, Second Edition)
## External links[edit]
Classification
D
* ICD-9-CM: 339.3
* v
* t
* e
Headache
Primary
ICHD 1
* Migraine
* Familial hemiplegic
* Retinal migraine
ICHD 2
* Tension
* Mixed tension migraine
ICHD 3
* Cluster
* Chronic paroxysmal hemicrania
* SUNCT
ICHD 4
* Hemicrania continua
* Thunderclap headache
* Sexual headache
* New daily persistent headache
* Hypnic headache
Secondary
ICHD 5
* Migralepsy
ICHD 7
* Ictal headache
* Post-dural-puncture headache
ICHD 8
* Hangover
* Medication overuse headache
ICHD 13
* Trigeminal neuralgia
* Occipital neuralgia
* External compression headache
* Cold-stimulus headache
* Optic neuritis
* Postherpetic neuralgia
* Tolosa–Hunt syndrome
Other
* Vascular
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
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{"icd-9": ["339.3"], "icd-10": ["G44.4"], "wikidata": ["Q5689498"]}
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viral disease caused by the Varicella zoster virus
For other uses, see Shingle (disambiguation).
"Zoster" redirects here. For the ancient Greek article of dress, see Zoster (costume).
Shingles
Other namesZoster, herpes zoster, zona
Herpes zoster blisters on the neck and shoulder
SpecialtyDermatology
SymptomsPainful rash occurring in a stripe[1]
ComplicationsPostherpetic neuralgia[1]
Duration2–4 weeks[2]
CausesVaricella zoster virus (VZV)[1]
Risk factorsOld age, poor immune function, having had chickenpox before 18 months of age[1]
Diagnostic methodBased on symptoms[3]
Differential diagnosisHerpes simplex, angina, insect bites[4]
PreventionShingles vaccine[1]
MedicationAciclovir (if given early), pain medication[3]
Frequency33% (at some point)[1]
Deaths6,400 (with chickenpox)[5]
Shingles, also known as zoster or herpes zoster, is a viral disease characterized by a painful skin rash with blisters in a localized area.[2][6] Typically the rash occurs in a single, wide stripe either on the left or right side of the body or face.[1] Two to four days before the rash occurs there may be tingling or local pain in the area.[1][7] Otherwise there are typically few symptoms though some may have fever or headache, or feel tired.[1][8] The rash usually heals within two to four weeks;[2] however, some people develop ongoing nerve pain which can last for months or years, a condition called postherpetic neuralgia (PHN).[1] In those with poor immune function the rash may occur widely.[1] If the rash involves the eye, vision loss may occur.[2][9]
Shingles is due to a reactivation of varicella zoster virus (VZV) in a person's body.[1] The disease chickenpox is caused by the initial infection with VZV.[1] Once chickenpox has resolved, the virus may remain inactive in nerve cells.[1] When it reactivates, it travels from the nerve body to the endings in the skin, producing blisters.[7] Risk factors for reactivation include old age, poor immune function, and having had chickenpox before 18 months of age.[1] How the virus remains in the body or subsequently re-activates is not well understood.[1] Exposure to the virus in the blisters can cause chickenpox in someone who has not had it, but will not trigger shingles.[10] Diagnosis is typically based on a person's signs and symptoms.[3] Varicella zoster virus is not the same as herpes simplex virus; however, they belong to the same family of viruses.[11]
The shingles vaccine reduces the risk of shingles by 50% to 90%, depending on the vaccine used.[1][12] It also decreases rates of postherpetic neuralgia, and if shingles occurs, its severity.[1] If shingles develops, antiviral medications such as aciclovir can reduce the severity and duration of disease if started within 72 hours of the appearance of the rash.[3] Evidence does not show a significant effect of antivirals or steroids on rates of postherpetic neuralgia.[13][14] Paracetamol, NSAIDs, or opioids may be used to help with the acute pain.[3]
It is estimated that about a third of people develop shingles at some point in their life.[1] While more common among older people, children may also get the disease.[11] The number of new cases per year ranges from 1.2 to 3.4 per 1,000 person-years among healthy individuals to 3.9 to 11.8 per 1,000 person-years among those older than 65 years of age.[8] About half of those living to age 85 will have at least one attack, and fewer than 5% will have more than one attack.[1][15] The disease has been recognized since ancient times.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Face
* 1.2 Disseminated shingles
* 2 Pathophysiology
* 3 Diagnosis
* 3.1 Differential diagnosis
* 4 Prevention
* 5 Treatment
* 5.1 Analgesics
* 5.2 Antivirals
* 5.3 Steroids
* 5.4 Zoster ophthalmicus
* 6 Prognosis
* 7 Epidemiology
* 8 History
* 8.1 Etymology
* 9 Research
* 10 References
* 11 External links
## Signs and symptoms[edit]
A case of shingles that demonstrates the typical dermatomal distribution, in this case C8/T1
The earliest symptoms of shingles, which include headache, fever, and malaise, are nonspecific, and may result in an incorrect diagnosis.[8][16] These symptoms are commonly followed by sensations of burning pain, itching, hyperesthesia (oversensitivity), or paresthesia ("pins and needles": tingling, pricking, or numbness).[17] Pain can be mild to extreme in the affected dermatome, with sensations that are often described as stinging, tingling, aching, numbing or throbbing, and can be interspersed with quick stabs of agonizing pain.[18]
Shingles in children is often painless, but people are more likely to get shingles as they age, and the disease tends to be more severe.[19]
In most cases after one to two days, but sometimes as long as three weeks, the initial phase is followed by the appearance of the characteristic skin rash. The pain and rash most commonly occur on the torso, but can appear on the face, eyes or other parts of the body. At first the rash appears similar to the first appearance of hives; however, unlike hives, shingles causes skin changes limited to a dermatome, normally resulting in a stripe or belt-like pattern that is limited to one side of the body and does not cross the midline.[17] Zoster sine herpete ("zoster without herpes") describes a person who has all of the symptoms of shingles except this characteristic rash.[20]
Later the rash becomes vesicular, forming small blisters filled with a serous exudate, as the fever and general malaise continue. The painful vesicles eventually become cloudy or darkened as they fill with blood, and crust over within seven to ten days; usually the crusts fall off and the skin heals, but sometimes, after severe blistering, scarring and discolored skin remain.[17]
Development of the shingles rash Day 1 Day 2 Day 5 Day 6
### Face[edit]
Shingles may have additional symptoms, depending on the dermatome involved. The trigeminal nerve is the most commonly involved nerve,[21] of which the ophthalmic division is the most commonly involved branch.[22] When the virus is reactivated in this nerve branch it is termed zoster ophthalmicus. The skin of the forehead, upper eyelid and orbit of the eye may be involved. Zoster ophthalmicus occurs in approximately 10% to 25% of cases. In some people, symptoms may include conjunctivitis, keratitis, uveitis, and optic nerve palsies that can sometimes cause chronic ocular inflammation, loss of vision, and debilitating pain.[23]
Shingles oticus, also known as Ramsay Hunt syndrome type II, involves the ear. It is thought to result from the virus spreading from the facial nerve to the vestibulocochlear nerve. Symptoms include hearing loss and vertigo (rotational dizziness).[24]
Shingles may occur in the mouth if the maxillary or mandibular division of the trigeminal nerve is affected,[25] in which the rash may appear on the mucous membrane of the upper jaw (usually the palate, sometimes the gums of the upper teeth) or the lower jaw (tongue or gums of the lower teeth) respectively.[26] Oral involvement may occur alone or in combination with a rash on the skin over the cutaneous distribution of the same trigeminal branch.[25] As with shingles of the skin, the lesions tend to only involve one side, distinguishing it from other oral blistering conditions.[26] In the mouth, shingles appears initially as 1–4 mm opaque blisters (vesicles),[25] which break down quickly to leave ulcers that heal within 10–14 days.[26] The prodromal pain (before the rash) may be confused with toothache.[25] Sometimes this leads to unnecessary dental treatment.[26] Post herpetic neuralgia uncommonly is associated with shingles in the mouth.[26] Unusual complications may occur with intra-oral shingles that are not seen elsewhere. Due to the close relationship of blood vessels to nerves, the virus can spread to involve the blood vessels and compromise the blood supply, sometimes causing ischemic necrosis.[25] Therefore, oral involvement rarely causes complications, such as osteonecrosis, tooth loss, periodontitis (gum disease), pulp calcification, pulp necrosis, periapical lesions and tooth developmental anomalies.[21]
### Disseminated shingles[edit]
In those with poor immune function, disseminated shingles may occur (wide rash).[1] It is defined as more than twenty skin lesions appearing outside either the primarily affected dermatome or dermatomes directly adjacent to it. Besides the skin, other organs, such as the liver or brain, may also be affected (causing hepatitis or encephalitis,[27][28] respectively), making the condition potentially lethal.[29]:380
## Pathophysiology[edit]
Electron micrograph of Varicella zoster virus. Approximately 150,000× magnification. The virus diameter is 150-200nm.[30]
Progression of shingles. A cluster of small bumps (1) turns into blisters (2). The blisters fill with lymph, break open (3), crust over (4), and finally disappear. Postherpetic neuralgia can sometimes occur due to nerve damage (5).
The causative agent for shingles is the varicella zoster virus (VZV) – a double-stranded DNA virus related to the herpes simplex virus. Most individuals are infected with this virus as children which causes an episode of chickenpox. The immune system eventually eliminates the virus from most locations, but it remains dormant (or latent) in the ganglia adjacent to the spinal cord (called the dorsal root ganglion) or the trigeminal ganglion in the base of the skull.[31]
Shingles occurs only in people who have been previously infected with VZV; although it can occur at any age, approximately half of the cases in the United States occur in those aged 50 years or older.[32] Repeated attacks of shingles are rare,[17] and it is extremely rare for a person to have more than three recurrences.[31]
The disease results from virus particles in a single sensory ganglion switching from their latent lysogenic cycles to their active lytic cycles.[33] In contrast to the herpes simplex virus, the latency of VZV is poorly understood. The virus has never been successfully recovered from human nerve cells by cell culture. Virus-specific proteins continue to be made by the infected cells during the latent period, so true latency, as opposed to chronic, low-level, active infection, has not been proven to occur in VZV infections.[34][35] Although VZV has been detected in autopsies of nervous tissue,[36] there are no methods to find dormant virus in the ganglia of living people.
Unless the immune system is compromised, it suppresses reactivation of the virus and prevents shingles outbreaks. Why this suppression sometimes fails is poorly understood,[37] but shingles is more likely to occur in people whose immune systems are impaired due to aging, immunosuppressive therapy, psychological stress, or other factors.[38][39] Upon reactivation, the virus replicates in neuronal cell bodies, and virions are shed from the cells and carried down the axons to the area of skin innervated by that ganglion. In the skin, the virus causes local inflammation and blistering. The short- and long-term pain caused by shingles outbreaks originates from inflammation of affected nerves due to the widespread growth of the virus in those areas.[40]
As with chickenpox and other forms of alpha-herpesvirus infection, direct contact with an active rash can spread the virus to a person who lacks immunity to it. This newly infected individual may then develop chickenpox, but will not immediately develop shingles.[17]
The complete sequence of the viral genome was published in 1986.[41]
## Diagnosis[edit]
Shingles on the chest
If the rash has appeared, identifying this disease (making a differential diagnosis) requires only a visual examination, since very few diseases produce a rash in a dermatomal pattern (see map). However, herpes simplex virus (HSV) can occasionally produce a rash in such a pattern (zosteriform herpes simplex).[42][43] The Tzanck smear is helpful for diagnosing acute infection with a herpes virus, but does not distinguish between HSV and VZV.[44]
When the rash is absent (early or late in the disease, or in the case of zoster sine herpete), shingles can be difficult to diagnose.[45] Apart from the rash, most symptoms can occur also in other conditions.
Laboratory tests are available to diagnose shingles. The most popular test detects VZV-specific IgM antibody in blood; this appears only during chickenpox or shingles and not while the virus is dormant.[46] In larger laboratories, lymph collected from a blister is tested by polymerase chain reaction for VZV DNA, or examined with an electron microscope for virus particles.[47] Molecular biology tests based on in vitro nucleic acid amplification (PCR tests) are currently considered the most reliable. Nested PCR test has high sensitivity, but is susceptible to contamination leading to false positive results. The latest real-time PCR tests are rapid, easy to perform, and as sensitive as nested PCR, and have a lower risk of contamination. They also have more sensitivity than viral cultures.[48]
### Differential diagnosis[edit]
Shingles can be confused with herpes simplex, dermatitis herpetiformis and impetigo, and skin reactions caused by contact dermatitis, candidiasis, certain drugs and insect bites.[49]
## Prevention[edit]
Main article: Zoster vaccine
Shingles can be prevented by the chickenpox vaccine if the vaccine is administered before the individual gets chickenpox.[50] If primary infection has already occurred, there are shingles vaccines that reduce the risk of developing shingles or developing severe shingles if the disease occurs.[1][12] They include a live attenuated virus vaccine, Zostavax, and an adjuvanted subunit vaccine, Shingrix.[51][52][53]
A review by Cochrane concluded that Zostavax was useful for preventing shingles for at least three years.[7] This equates to about 50% relative risk reduction. The vaccine reduced rates of persistent, severe pain after shingles by 66% in people who contracted shingles despite vaccination.[54] Vaccine efficacy was maintained through four years of follow up.[54] It has been recommended that people with primary or acquired immunodeficiency should not receive the live vaccine.[54]
Two doses of Shingrix are recommended, which provide about 90% protection at 3.5 years.[53][51] As of 2016, it had been studied only in people with an intact immune system.[12] It appears to also be effective in the very old.[12]
In the UK, Zostavax is offered by the National Health Service (NHS) to all people at age 70 and 78.[55] By August 2017, just under half of eligible 70–78 year olds had been vaccinated.[56] About 3% of those eligible by age have conditions that suppress their immune system, and should not receive the vaccine.[57] There had been 1,104 adverse reaction reports by April 2018.[57] In the US, it is recommended that healthy adults 50 years and older receive two doses of Shingrix, two to six months apart.[51][58]
## Treatment[edit]
The aims of treatment are to limit the severity and duration of pain, shorten the duration of a shingles episode, and reduce complications. Symptomatic treatment is often needed for the complication of postherpetic neuralgia.[59] However, a study on untreated shingles shows that, once the rash has cleared, postherpetic neuralgia is very rare in people under 50 and wears off in time; in older people the pain wore off more slowly, but even in people over 70, 85% were free from pain a year after their shingles outbreak.[60]
### Analgesics[edit]
People with mild to moderate pain can be treated with over-the-counter pain medications. Topical lotions containing calamine can be used on the rash or blisters and may be soothing. Occasionally, severe pain may require an opioid medication, such as morphine. Once the lesions have crusted over, capsaicin cream (Zostrix) can be used. Topical lidocaine and nerve blocks may also reduce pain.[61] Administering gabapentin along with antivirals may offer relief of postherpetic neuralgia.[59]
### Antivirals[edit]
Antiviral drugs may reduce the severity and duration of shingles;[62] however, they do not prevent postherpetic neuralgia.[63] Of these drugs, aciclovir has been the standard treatment, but the newer drugs valaciclovir and famciclovir demonstrate similar or superior efficacy and good safety and tolerability.[59] The drugs are used both for prevention (for example in people with HIV/AIDS) and as therapy during the acute phase. Complications in immunocompromised individuals with shingles may be reduced with intravenous aciclovir. In people who are at a high risk for repeated attacks of shingles, five daily oral doses of aciclovir are usually effective.[24]
### Steroids[edit]
Corticosteroids do not appear to decrease the risk of long-term pain.[14] Side effects however appear to be minimal. Their use in Ramsay Hunt syndrome had not been properly studied as of 2008.[64]
### Zoster ophthalmicus[edit]
Zoster ophthalmicus
Treatment for zoster ophthalmicus is similar to standard treatment for shingles at other sites. A recent trial comparing acyclovir with its prodrug, valacyclovir, demonstrated similar efficacies in treating this form of the disease.[65] The significant advantage of valacyclovir over acyclovir is its dosing of only three times/day (compared with acyclovir's five times/day dosing), which could make it more convenient for people and improve adherence with therapy.[66]
## Prognosis[edit]
The rash and pain usually subside within three to five weeks, but about one in five people develops a painful condition called postherpetic neuralgia, which is often difficult to manage. In some people, shingles can reactivate presenting as zoster sine herpete: pain radiating along the path of a single spinal nerve (a dermatomal distribution), but without an accompanying rash. This condition may involve complications that affect several levels of the nervous system and cause many cranial neuropathies, polyneuritis, myelitis, or aseptic meningitis. Other serious effects that may occur in some cases include partial facial paralysis (usually temporary), ear damage, or encephalitis.[24] Although initial infections with VZV during pregnancy, causing chickenpox, may lead to infection of the fetus and complications in the newborn, chronic infection or reactivation in shingles are not associated with fetal infection.[67][68]
There is a slightly increased risk of developing cancer after a shingles episode. However, the mechanism is unclear and mortality from cancer did not appear to increase as a direct result of the presence of the virus.[69] Instead, the increased risk may result from the immune suppression that allows the reactivation of the virus.[70]
Although shingles typically resolves within 3–5 weeks, certain complications may arise:
* Secondary bacterial infection.[9]
* Motor involvement,[9] including weakness especially in "motor herpes zoster".[71]
* Eye involvement: trigeminal nerve involvement (as seen in herpes ophthalmicus) should be treated early and aggressively as it may lead to blindness. Involvement of the tip of the nose in the zoster rash is a strong predictor of herpes ophthalmicus.[72]
* Postherpetic neuralgia, a condition of chronic pain following shingles.
## Epidemiology[edit]
See also: Chickenpox epidemiology
Varicella zoster virus (VZV) has a high level of infectivity and has a worldwide prevalence.[73] Shingles is a re-activation of latent VZV infection: zoster can only occur in someone who has previously had chickenpox (varicella).
Shingles has no relationship to season and does not occur in epidemics. There is, however, a strong relationship with increasing age.[19][38] The incidence rate of shingles ranges from 1.2 to 3.4 per 1,000 person‐years among younger healthy individuals, increasing to 3.9–11.8 per 1,000 person‐years among those older than 65 years,[8][19] and incidence rates worldwide are similar.[8][74] This relationship with age has been demonstrated in many countries,[8][74][75][76][77][78] and is attributed to the fact that cellular immunity declines as people grow older.
Another important risk factor is immunosuppression.[79][80][81] Other risk factors include psychological stress.[18][82][83] According to a study in North Carolina, "black subjects were significantly less likely to develop zoster than were white subjects."[84][85] It is unclear whether the risk is different by sex. Other potential risk factors include mechanical trauma and exposure to immunotoxins.[38][83]
There is no strong evidence for a genetic link or a link to family history. A 2008 study showed that people with close relatives who had shingles were twice as likely to develop it themselves,[86] but a 2010 study found no such link.[83]
Adults with latent VZV infection who are exposed intermittently to children with chickenpox receive an immune boost.[19][83] This periodic boost to the immune system helps to prevent shingles in older adults. When routine chickenpox vaccination was introduced in the United States, there was concern that, because older adults would no longer receive this natural periodic boost, there would be an increase in the incidence of shingles.
Multiple studies and surveillance data, at least when viewed superficially, demonstrate no consistent trends in incidence in the U.S. since the chickenpox vaccination program began in 1995.[87] However, upon closer inspection, the two studies that showed no increase in shingles incidence were conducted among populations where varicella vaccination was not as yet widespread in the community.[88][89] A later study by Patel et al. concluded that since the introduction of the chickenpox vaccine, hospitalization costs for complications of shingles increased by more than $700 million annually for those over age 60.[90] Another study by Yih et al. reported that as varicella vaccine coverage in children increased, the incidence of varicella decreased, and the occurrence of shingles among adults increased by 90%.[91] The results of a further study by Yawn et al. showed a 28% increase in shingles incidence from 1996 to 2001.[92] It is likely that incidence rate will change in the future, due to the aging of the population, changes in therapy for malignant and autoimmune diseases, and changes in chickenpox vaccination rates; a wide adoption of zoster vaccination could dramatically reduce the incidence rate.[8]
In one study, it was estimated that 26% of those who contract shingles eventually present complications. Postherpetic neuralgia arises in approximately 20% of people with shingles.[93] A study of 1994 California data found hospitalization rates of 2.1 per 100,000 person-years, rising to 9.3 per 100,000 person-years for ages 60 and up.[94] An earlier Connecticut study found a higher hospitalization rate; the difference may be due to the prevalence of HIV in the earlier study, or to the introduction of antivirals in California before 1994.[95]
## History[edit]
Shingles has a long recorded history, although historical accounts fail to distinguish the blistering caused by VZV and those caused by smallpox,[32] ergotism, and erysipelas. In the late 18th century William Heberden established a way to differentiate between shingles and smallpox,[96] and in the late 19th century shingles was differentiated from erysipelas. In 1831 Richard Bright hypothesized that the disease arose from the dorsal root ganglion, and an 1861 paper by Felix von Bärensprung confirmed this.[97]
The first indications that chickenpox and shingles were caused by the same virus were noticed at the beginning of the 20th century. Physicians began to report that cases of shingles were often followed by chickenpox in the younger people who lived with the person with shingles. The idea of an association between the two diseases gained strength when it was shown that lymph from a person with shingles could induce chickenpox in young volunteers. This was finally proved by the first isolation of the virus in cell cultures, by the Nobel laureate Thomas Huckle Weller, in 1953.[98] Some sources also attribute the first isolation of the herpes zoster virus to Evelyn Nicol.[99]
Until the 1940s the disease was considered benign, and serious complications were thought to be very rare.[100] However, by 1942, it was recognized that shingles was a more serious disease in adults than in children and that it increased in frequency with advancing age. Further studies during the 1950s on immunosuppressed individuals showed that the disease was not as benign as once thought, and the search for various therapeutic and preventive measures began.[101] By the mid-1960s, several studies identified the gradual reduction in cellular immunity in old age, observing that in a cohort of 1,000 people who lived to the age of 85, approximately 500 (i.e., 50%) would have at least one attack of shingles, and 10 (i.e., 1%) would have at least two attacks.[102]
In historical shingles studies, shingles incidence generally increased with age. However, in his 1965 paper, Hope-Simpson suggested that the "peculiar age distribution of zoster may in part reflect the frequency with which the different age groups encounter cases of varicella and because of the ensuing boost to their antibody protection have their attacks of zoster postponed".[19] Lending support to this hypothesis that contact with children with chickenpox boosts adult cell-mediated immunity to help postpone or suppress shingles, a study by Thomas et al. reported that adults in households with children had lower rates of shingles than households without children.[103] Also, the study by Terada et al. indicated that pediatricians reflected incidence rates from 1/2 to 1/8 that of the general population their age.[104]
### Etymology[edit]
The family name of all the herpesviruses derives from the Greek word herpēs,[105] from herpein ("to creep"),[106][107][108] referring to the latent, recurring infections typical of this group of viruses. Zoster comes from Greek zōstēr,[109] meaning "belt" or "girdle", after the characteristic belt-like dermatomal rash.[110] The common name for the disease, shingles, derives from the Latin cingulus, a variant of Latin cingulum[111] meaning "girdle".[112]
In Arabic its name means "belt of fire", while in Spanish it means "small snake"; in Hindi it means "big rash"[113] and in Norwegian its name is helvetesild, literally "hell's fire".[114]
## Research[edit]
Until the mid 1990s, infectious complications of the central nervous system (CNS) caused by VZV reactivation were regarded as rare. The presence of rash, as well as specific neurological symptoms, were required to diagnose a CNS infection caused by VZV. Since 2000, PCR testing has become more widely used, and the number of diagnosed cases of CNS infection has increased.[115]
Classic textbook descriptions state that VZV reactivation in the CNS is restricted to immunocompromised individuals and the elderly; however, recent studies have found that most patients are immunocompetent, and less than 60 years old. Old references cite vesicular rash as a characteristic finding; however, recent studies have found that rash is only present in 45% of cases.[115] In addition, systemic inflammation is not as reliable an indicator as previously thought: the mean level of C-reactive protein and mean white blood cell count are within the normal range in patients with VZV meningitis.[116] MRI and CT scans are usually normal in cases of VZV reactivation in the CNS. CSF pleocytosis, previously thought to be a strong indicator of VZV encephalitis, was absent in half of a group of patients diagnosed with VZV encephalitis by PCR.[115]
The frequency of CNS infections presented at the emergency room of a community hospital is not negligible, so a means of diagnosing cases is needed. PCR is not a foolproof method of diagnosis, but because so many other indicators have turned out to not be reliable in diagnosing VZV infections in the CNS, screening for VZV by PCR is recommended. Negative PCR does not rule out VZV involvement, but a positive PCR can be used for diagnosis, and appropriate treatment started (for example, antivirals can be prescribed rather than antibiotics).[115]
The introduction of DNA analysis techniques has shown some complications of varicella-zoster to be more common than previously thought. For example, sporadic meningoencephalitis (ME) caused by varicella-zoster was regarded as rare disease, mostly related to childhood chickenpox. However, meningoencephalitis caused by varicella-zoster is increasingly recognized as a predominant cause of ME among immunocompetent adults in non-epidemic circumstances.[117]
Diagnosis of complications of varicella-zoster, particularly in cases where the disease reactivates after years or decades of latency, is difficult. A rash (shingles) can be present or absent. Symptoms vary, and there is significant overlap in symptoms with herpes-simplex symptoms.[117]
Although DNA analysis techniques such as polymerase chain reaction (PCR) can be used to look for DNA of herpesviruses in spinal fluid or blood, the results may be negative, even in cases where other definitive symptoms exist.[118] Notwithstanding these limitations, the use of PCR has resulted in an advance in the state of the art in our understanding of herpesviruses, including VZV, during the 1990s and 2000s. For example, in the past, clinicians believed that encephalitis was caused by herpes simplex, and that patients always died or developed serious long term function problems. People were diagnosed at autopsy or by brain biopsy. Brain biopsy is not undertaken lightly: it is reserved only for serious cases that cannot be diagnosed by less invasive methods. For this reason, knowledge of these herpes virus conditions was limited to severe cases. DNA techniques have made it possible to diagnose "mild" cases, caused by VZV or HSV, in which the symptoms include fever, headache, and altered mental status. Mortality rates in treated patients are decreasing.[117]
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97. ^ Oaklander AL (October 1999). "The pathology of shingles: Head and Campbell's 1900 monograph". Arch. Neurol. 56 (10): 1292–94. doi:10.1001/archneur.56.10.1292. PMID 10520948.
98. ^ Weller TH (1953). "Serial propagation in vitro of agents producing inclusion bodies derived from varicella and herpes zoster". Proc. Soc. Exp. Biol. Med. 83 (2): 340–46. doi:10.3181/00379727-83-20354. PMID 13064265. S2CID 28771357.
99. ^ "Evelyn Nicol 1930 - 2020 - Obituary". www.legacy.com. Retrieved 2020-08-28.
100. ^ Holt LE, McIntosh R (1936). Holt's Diseases of Infancy and Childhood. D Appleton Century Company. pp. 931–33.
101. ^ Weller TH (1997). "Varicella-herpes zoster virus". In Evans AS, Kaslow RA (eds.). Viral Infections of Humans: Epidemiology and Control. Plenum Press. pp. 865–92. ISBN 978-0-306-44855-3.
102. ^ Hope-Simpson RE (1965). "The nature of herpes zoster; a long-term study and a new hypothesis". Proceedings of the Royal Society of Medicine. 58 (1): 9–20. doi:10.1177/003591576505800106. PMC 1898279. PMID 14267505.
103. ^ Thomas SL, Wheeler JG, Hall AJ (2002). "Contacts with varicella or with children and protection against herpes zoster in adults: a case-control study". The Lancet. 360 (9334): 678–82. doi:10.1016/S0140-6736(02)09837-9. PMID 12241874. S2CID 28385365.
104. ^ Terada K, Hiraga Y, Kawano S, et al. (1995). "Incidence of herpes zoster in pediatricians and history of reexposure to varicella-zoster virus in patients with herpes zoster". Kansenshogaku Zasshi. 69 (8): 908–12. doi:10.11150/kansenshogakuzasshi1970.69.908. ISSN 0387-5911. PMID 7594784.
105. ^ ἕρπης. Liddell, Henry George; Scott, Robert; A Greek–English Lexicon at the Perseus Project.
106. ^ ἕρπειν in Liddell and Scott.
107. ^ Harper, Douglas. "herpes". Online Etymology Dictionary.
108. ^ "Herpes | Define Herpes at Dictionary.com". Archived from the original on 2011-02-25. Retrieved 2011-03-14.
109. ^ ζωστήρ in Liddell and Scott.
110. ^ Harper, Douglas. "zoster". Online Etymology Dictionary.
111. ^ cingulus, cingulum. Charlton T. Lewis and Charles Short. A Latin Dictionary on Perseus Project.
112. ^ Harper, Douglas. "shingles". Online Etymology Dictionary.
113. ^ Yawn BP, Gilden D (3 September 2013). "The global epidemiology of herpes zoster". Neurology. 81 (10): 928–30. doi:10.1212/wnl.0b013e3182a3516e. PMC 3885217. PMID 23999562.
114. ^ "Helvetesild (Herpes zoster)". helsenorge.no. Archived from the original on 22 December 2016. Retrieved 22 December 2016.
115. ^ a b c d Becerra JC, Sieber R, Martinetti G, et al. (July 2013). "Infection of the central nervous system caused by varicella zoster virus reactivation: a retrospective case series study". International Journal of Infectious Diseases. 17 (7): e529–34. doi:10.1016/j.ijid.2013.01.031. PMID 23566589.
116. ^ Ihekwaba UK, Kudesia G, McKendrick MW (September 15, 2008). "Clinical features of viral meningitis in adults: significant differences in cerebrospinal fluid findings among herpes simplex virus, varicella zoster virus, and enterovirus infections" (PDF). Clinical Infectious Diseases. 47 (6): 783–9. doi:10.1086/591129. ISSN 1058-4838. PMID 18680414.
117. ^ a b c Pollak L, Dovrat S, Book M, et al. (August 2011). "Varicella zoster vs. herpes simplex meningoencephalitis in the PCR era. A single center study". Journal of the Neurological Sciences. 314 (1–2): 29–36. doi:10.1016/j.jns.2011.11.004. PMID 22138027. S2CID 3321888.
118. ^ Kojima Y, Hashiguchi H, Hashimoto T, et al. (15 September 2008). "Recurrent Herpes Simplex Virus Type 2 Meningitis: A Case Report of Mollaret's Meningitis" (PDF). Japanese Journal of Infectious Diseases. 55 (3): 85–8. ISSN 1344-6304. PMID 12195049. Archived (PDF) from the original on 2013-01-22.
## External links[edit]
Classification
D
* ICD-10: B02
* ICD-9-CM: 053
* MeSH: D006562
* DiseasesDB: 29119
External resources
* MedlinePlus: 000858
* eMedicine: med/1007 derm/180 emerg/823 oph/257 ped/996
* Patient UK: Shingles
Wikipedia's health care articles can be viewed offline with the Medical Wikipedia app.
Wikimedia Commons has media related to Herpes zoster.
* NINDS Shingles Information Page, National Institute of Neurological Disorders and Stroke
* v
* t
* e
Diseases of the skin and appendages by morphology
Growths
Epidermal
* Wart
* Callus
* Seborrheic keratosis
* Acrochordon
* Molluscum contagiosum
* Actinic keratosis
* Squamous-cell carcinoma
* Basal-cell carcinoma
* Merkel-cell carcinoma
* Nevus sebaceous
* Trichoepithelioma
Pigmented
* Freckles
* Lentigo
* Melasma
* Nevus
* Melanoma
Dermal and
subcutaneous
* Epidermal inclusion cyst
* Hemangioma
* Dermatofibroma (benign fibrous histiocytoma)
* Keloid
* Lipoma
* Neurofibroma
* Xanthoma
* Kaposi's sarcoma
* Infantile digital fibromatosis
* Granular cell tumor
* Leiomyoma
* Lymphangioma circumscriptum
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Rashes
With
epidermal
involvement
Eczematous
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Scaling
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* Faciei)
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Papular
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Indurated
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disorders
Ulcers
*
Hair
* Telogen effluvium
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* Alopecia areata
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* Folliculitis decalvans
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Nail
* Onychomycosis
* Psoriasis
* Paronychia
* Ingrown nail
Mucous
membrane
* Aphthous stomatitis
* Oral candidiasis
* Lichen planus
* Leukoplakia
* Pemphigus vulgaris
* Mucous membrane pemphigoid
* Cicatricial pemphigoid
* Herpesvirus
* Coxsackievirus
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* Squamous-cell carcinoma
* v
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
Alpha
HSV
* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
* Herpes genitalis
* Herpes labialis
* Eczema herpeticum
* Herpetiform esophagitis
Herpes B virus
* B virus infection
VZV
* Chickenpox
* Herpes zoster
* Herpes zoster oticus
* Ophthalmic zoster
* Disseminated herpes zoster
* Zoster-associated pain
* Modified varicella-like syndrome
Beta
* Human herpesvirus 6/Roseolovirus
* Exanthema subitum
* Roseola vaccinia
* Cytomegalic inclusion disease
Gamma
* KSHV
* Kaposi's sarcoma
Poxviridae
Ortho
* Variola
* Smallpox
* Alastrim
* MoxV
* Monkeypox
* CPXV
* Cowpox
* VV
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox
Para
* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox
Other
* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* MCV
* Molluscum contagiosum
Papillomaviridae
HPV
* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares
* BPV
* Equine sarcoid
Parvoviridae
* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome
Polyomaviridae
* Merkel cell polyomavirus
* Merkel cell carcinoma
RNA virus
Paramyxoviridae
* MeV
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* Rubella
* Congenital rubella syndrome ("German measles" )
* Alphavirus infection
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Picornaviridae
* CAV
* Hand, foot, and mouth disease
* Herpangina
* FMDV
* Foot-and-mouth disease
* Boston exanthem disease
Ungrouped
* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome
* v
* t
* e
Varicella zoster
Varicella zoster virus
* Varicellovirus
Diseases
* Chickenpox
* Herpes zoster
* Postherpetic neuralgia
* Ramsay Hunt syndrome type II
* Disseminated herpes zoster
* Progressive outer retinal necrosis
* Ophthalmic zoster
Treatment
* Aciclovir
* Vidarabine
* VZV immune globulin
Prevention
* Varicella vaccine
* Zoster vaccine
* Pox party
Other
* Michiaki Takahashi
* v
* t
* e
Oral and maxillofacial pathology
Lips
* Cheilitis
* Actinic
* Angular
* Plasma cell
* Cleft lip
* Congenital lip pit
* Eclabium
* Herpes labialis
* Macrocheilia
* Microcheilia
* Nasolabial cyst
* Sun poisoning
* Trumpeter's wart
Tongue
* Ankyloglossia
* Black hairy tongue
* Caviar tongue
* Crenated tongue
* Cunnilingus tongue
* Fissured tongue
* Foliate papillitis
* Glossitis
* Geographic tongue
* Median rhomboid glossitis
* Transient lingual papillitis
* Glossoptosis
* Hypoglossia
* Lingual thyroid
* Macroglossia
* Microglossia
* Rhabdomyoma
Palate
* Bednar's aphthae
* Cleft palate
* High-arched palate
* Palatal cysts of the newborn
* Inflammatory papillary hyperplasia
* Stomatitis nicotina
* Torus palatinus
Oral mucosa – Lining of mouth
* Amalgam tattoo
* Angina bullosa haemorrhagica
* Behçet's disease
* Bohn's nodules
* Burning mouth syndrome
* Candidiasis
* Condyloma acuminatum
* Darier's disease
* Epulis fissuratum
* Erythema multiforme
* Erythroplakia
* Fibroma
* Giant-cell
* Focal epithelial hyperplasia
* Fordyce spots
* Hairy leukoplakia
* Hand, foot and mouth disease
* Hereditary benign intraepithelial dyskeratosis
* Herpangina
* Herpes zoster
* Intraoral dental sinus
* Leukoedema
* Leukoplakia
* Lichen planus
* Linea alba
* Lupus erythematosus
* Melanocytic nevus
* Melanocytic oral lesion
* Molluscum contagiosum
* Morsicatio buccarum
* Oral cancer
* Benign: Squamous cell papilloma
* Keratoacanthoma
* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
* Mucosal melanoma
* Spindle cell carcinoma
* Squamous cell carcinoma
* Verrucous carcinoma
* Oral florid papillomatosis
* Oral melanosis
* Smoker's melanosis
* Pemphigoid
* Benign mucous membrane
* Pemphigus
* Plasmoacanthoma
* Stomatitis
* Aphthous
* Denture-related
* Herpetic
* Smokeless tobacco keratosis
* Submucous fibrosis
* Ulceration
* Riga–Fede disease
* Verruca vulgaris
* Verruciform xanthoma
* White sponge nevus
Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
* Early childhood caries
* Concrescence
* Failure of eruption of teeth
* Dens evaginatus
* Talon cusp
* Dentin dysplasia
* Dentin hypersensitivity
* Dentinogenesis imperfecta
* Dilaceration
* Discoloration
* Ectopic enamel
* Enamel hypocalcification
* Enamel hypoplasia
* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
* Gemination
* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
* Meth mouth
* Microdontia
* Odontogenic tumors
* Keratocystic odontogenic tumour
* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
* Pulp stone
* Pulp canal obliteration
* Pulp necrosis
* Pulp polyp
* Pulpitis
* Regional odontodysplasia
* Resorption
* Shovel-shaped incisors
* Supernumerary root
* Taurodontism
* Trauma
* Avulsion
* Cracked tooth syndrome
* Vertical root fracture
* Occlusal
* Tooth loss
* Edentulism
* Tooth wear
* Abrasion
* Abfraction
* Acid erosion
* Attrition
Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures
* Cementicle
* Cementoblastoma
* Gigantiform
* Cementoma
* Eruption cyst
* Epulis
* Pyogenic granuloma
* Congenital epulis
* Gingival enlargement
* Gingival cyst of the adult
* Gingival cyst of the newborn
* Gingivitis
* Desquamative
* Granulomatous
* Plasma cell
* Hereditary gingival fibromatosis
* Hypercementosis
* Hypocementosis
* Linear gingival erythema
* Necrotizing periodontal diseases
* Acute necrotizing ulcerative gingivitis
* Pericoronitis
* Peri-implantitis
* Periodontal abscess
* Periodontal trauma
* Periodontitis
* Aggressive
* As a manifestation of systemic disease
* Chronic
* Perio-endo lesion
* Teething
Periapical, mandibular and maxillary hard tissues – Bones of jaws
* Agnathia
* Alveolar osteitis
* Buccal exostosis
* Cherubism
* Idiopathic osteosclerosis
* Mandibular fracture
* Microgenia
* Micrognathia
* Intraosseous cysts
* Odontogenic: periapical
* Dentigerous
* Buccal bifurcation
* Lateral periodontal
* Globulomaxillary
* Calcifying odontogenic
* Glandular odontogenic
* Non-odontogenic: Nasopalatine duct
* Median mandibular
* Median palatal
* Traumatic bone
* Osteoma
* Osteomyelitis
* Osteonecrosis
* Bisphosphonate-associated
* Neuralgia-inducing cavitational osteonecrosis
* Osteoradionecrosis
* Osteoporotic bone marrow defect
* Paget's disease of bone
* Periapical abscess
* Phoenix abscess
* Periapical periodontitis
* Stafne defect
* Torus mandibularis
Temporomandibular joints, muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities
* Bruxism
* Condylar resorption
* Mandibular dislocation
* Malocclusion
* Crossbite
* Open bite
* Overbite
* Overeruption
* Overjet
* Prognathia
* Retrognathia
* Scissor bite
* Maxillary hypoplasia
* Temporomandibular joint dysfunction
Salivary glands
* Benign lymphoepithelial lesion
* Ectopic salivary gland tissue
* Frey's syndrome
* HIV salivary gland disease
* Necrotizing sialometaplasia
* Mucocele
* Ranula
* Pneumoparotitis
* Salivary duct stricture
* Salivary gland aplasia
* Salivary gland atresia
* Salivary gland diverticulum
* Salivary gland fistula
* Salivary gland hyperplasia
* Salivary gland hypoplasia
* Salivary gland neoplasms
* Benign: Basal cell adenoma
* Canalicular adenoma
* Ductal papilloma
* Monomorphic adenoma
* Myoepithelioma
* Oncocytoma
* Papillary cystadenoma lymphomatosum
* Pleomorphic adenoma
* Sebaceous adenoma
* Malignant: Acinic cell carcinoma
* Adenocarcinoma
* Adenoid cystic carcinoma
* Carcinoma ex pleomorphic adenoma
* Lymphoma
* Mucoepidermoid carcinoma
* Sclerosing polycystic adenosis
* Sialadenitis
* Parotitis
* Chronic sclerosing sialadenitis
* Sialectasis
* Sialocele
* Sialodochitis
* Sialosis
* Sialolithiasis
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Orofacial soft tissues – Soft tissues around the mouth
* Actinomycosis
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* Basal cell carcinoma
* Cutaneous sinus of dental origin
* Cystic hygroma
* Gnathophyma
* Ludwig's angina
* Macrostomia
* Melkersson–Rosenthal syndrome
* Microstomia
* Noma
* Oral Crohn's disease
* Orofacial granulomatosis
* Perioral dermatitis
* Pyostomatitis vegetans
Other
* Eagle syndrome
* Hemifacial hypertrophy
* Facial hemiatrophy
* Oral manifestations of systemic disease
* Viruses portal
* Medicine portal
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Shingles
|
c0019360
| 27,158 |
wikipedia
|
https://en.wikipedia.org/wiki/Shingles
| 2021-01-18T18:51:05 |
{"mesh": ["D006562"], "umls": ["C0019360"], "wikidata": ["Q182155"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-28 (DFNB28) is caused by homozygous mutation in the TRIOBP gene (609761) on chromosome 22q13.
Mapping
Shahin et al. (2006) ascertained children with prelingual hearing loss from Palestinian schools for the deaf and identified an Orthodox Christian family with autosomal recessive bilateral symmetrical profound sensorineural hearing loss. Genomewide linkage analysis yielded a maximum lod score of 4.19 at marker D22S423 on chromosome 22q13.1. Fine mapping defined a 6.3-Mb region bounded by D22S1045 and D22S282, designated DFNB28 by them.
Riazuddin et al. (2006) performed genomewide linkage analysis in a Pakistani family whose deafness was not linked to genetic markers at known nonsyndromic recessive deafness loci. A 2-point lod score of 3.1 was achieved with marker D22S272 on chromosome 22q13.
Molecular Genetics
In 4 Palestinian Orthodox Christian families with hearing loss linked to the DFNB28 region, Shahin et al. (2006) found a nonsense mutation in the TRIOBP gene, arg347 to ter (R347X; 609761.0001), in homozygosity in all affected individuals. Three other Palestinian Muslim families whose deafness mapped to the DFNB28 region carried another termination mutation in TRIOBP (Q581X; 609761.0002). One family was found in which 2 deaf children were compound heterozygous for R347X and Q581X. They also found a novel missense mutation in compound heterozygosity with the R347X mutation in a child with profound hearing loss.
Riazuddin et al. (2006) sequenced all exons of the TRIOBP gene in genomic DNA of affected persons from each of the 12 Pakistani and Indian families identified by them. They identified 6 mutations, including 4 nonsense and 2 frameshift, in 7 families. All these mutations were located in exon 6 of the TRIOBP gene, and all 6 alleles resulted in truncation of the protein. In 5 families no mutation in TRIOBP was found, indicating the presence of additional exons of the TRIOBP gene, undetected mutations, or locus heterogeneity.
Animal Model
Kitajiri et al. (2010) noted that the Triobp1 isoform has ubiquitous expression, whereas Triobp4 and Triobp5 isoforms have expression predominantly in the eye and inner ear. The authors generated a Triobp4/5-deficient mouse recapitulating human DFNB28 deafness. Triobp1-null mice were embryonic lethal, suggesting an essential role in development for this isoform. In Triobp4/5-null mice, rootlets in inner ear hair cells failed to develop, resulting in normal-length stereocilia that were abnormally flexible at the pivot points and were easily damaged by overstimulation. Although mutant hair cells were still able to function in mechanoelectrical transduction prior to the onset of hearing, they were unlikely to have normal mechanosensitivity in vivo due to both decreased pivotal stiffness and increased fragility. The findings indicated that dense bundling of actin filaments by TRIOBP is essential for the biogenesis of rootlets that provide durable flexibility at the taper, and mechanical rigidity to the stereocilia bundle.
INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss, sensorineural, severe to profound MISCELLANEOUS \- Prelingual onset MOLECULAR BASIS \- Caused by mutation in the TRIO- and F-actin-binding protein (TRIOBP, 609761.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
DEAFNESS, AUTOSOMAL RECESSIVE 28
|
c1853276
| 27,159 |
omim
|
https://www.omim.org/entry/609823
| 2019-09-22T16:05:31 |
{"doid": ["0110486"], "mesh": ["C565218"], "omim": ["609823"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"], "genereviews": ["NBK1434"]}
|
Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Hemifacial hyperplasia
|
c1399354
| 27,160 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141145
| 2021-01-23T18:18:56 |
{"mesh": ["C563014"], "omim": ["133900"], "umls": ["C1399354"], "icd-10": ["Q67.4"], "synonyms": ["Hemifacial hypertrophy"]}
|
Phyllodes tumor
Micrograph of a phyllodes tumor (right of image) with the characteristic long clefts and myxoid cellular stroma. Normal breast and fibrocystic change are also seen (left of image). H&E stain.
Phyllodes tumors (from Greek: phullon leaf), also cystosarcoma phyllodes, cystosarcoma phylloides and phylloides tumor, are typically large, fast-growing masses that form from the periductal stromal cells of the breast. They account for less than 1% of all breast neoplasms.
## Contents
* 1 Presentation
* 2 Diagnosis
* 2.1 Classification
* 3 Treatment
* 4 Spectrum
* 5 References
* 6 External links
## Presentation[edit]
Phyllodes tumor in mammography
Anatomopathological results of phyllodes tumor.
This is predominantly a tumor of adult women, with very few examples reported in adolescents. Patients typically present with a firm, palpable mass. These tumors are very fast-growing, and can increase in size in just a few weeks. Occurrence is most common between the ages of 40 and 50, prior to menopause. This is about 15 years older than the typical age of patients with fibroadenoma, a condition with which phyllodes tumors may be confused. They have been documented to occur at any age above 12 years.[citation needed]
## Diagnosis[edit]
### Classification[edit]
Phyllodes tumors are a fibroepithelial tumor composed of an epithelial and a cellular stromal component. They may be considered benign, borderline, or malignant depending on histologic features including stromal cellularity, infiltration at the tumor's edge, and mitotic activity.[1] All forms of phyllodes tumors are regarded as having malignant potential. A large series from the M.D. Anderson Cancer Centre reported the incidence of each as benign (58%), borderline (12%), and malignant (30%). Malignant phyllodes tumours behave like sarcomas and can develop blood-borne metastases. Approximately 10% of patients with phyllodes tumours develop distant metastases and this can go up to 20% in patients with histologically malignant tumours.[2] The commonest sites for distant metastases are the lung, bone, and abdominal viscera. Rare sites of metastasis, such as to the parotid region, have also been described.[3]
They are classified as a fibroepithelial tumor by ICD-O, but not by MeSH.
Younger women have a higher chance of having a benign phyllodes tumor.[4]
Histopathologic classification[5] Benign Borderline Malignant
Margin Pushing Infiltrating
Stromal atypia Minimal Moderate Severe
Mitoses per 10 HPF <5 5 to 9 ≥10
Stromal overgrowth Absent Present
## Treatment[edit]
The common treatment for phyllodes is wide local excision.[1] Other than surgery, there is no cure for phyllodes, as chemotherapy and radiation therapy are not effective. The risk of developing local recurrence or metastases is related to the histologic grade, according to the above-named features. Despite wide excision, a very high percentage of surgeries yielded incomplete excision margins that required revision surgery.[4] Radiation treatment after breast-conserving surgery with negative margins may significantly reduce the local recurrence rate for borderline and malignant tumors.[6] The authors of a 2012 study have derived a risk calculator for relapse risk of phyllodes tumors after surgery.[7]
## Spectrum[edit]
Phyllodes tumors are considered to be on a spectrum of disease[8] that consists of fibroadenoma, fibroadenoma variant and benign phyllodes. Some would extend the spectrum to include malignant phyllodes tumors and frank sarcoma.[citation needed]
## References[edit]
1. ^ a b Tan BY, Acs G, Apple SK, Badve S, Bleiweiss IJ, Brogi E, Calvo JP, Dabbs DJ, Ellis IO, Eusebi V, Farshid G, Fox SB, Ichihara S, Lakhani SR, Rakha EA, Reis-Filho JS, Richardson AL, Sahin A, Schmitt FC, Schnitt SJ, Siziopikou KP, Soares FA, Tse GM, Vincent-Salomon A, Tan PH (2016). "Phyllodes tumours of the breast: a consensus review". Histopathology. 68 (1): 5–21. doi:10.1111/his.12876. PMC 5027876. PMID 26768026.
2. ^ Moffat CJ, Pinder SE, Dixon AR, Elston CW, Blamey RW, Ellis IO (1995). "Phyllodes tumour of the breast: a clinicopathological review of the thirty-two cases". Histopathology. 27 (3): 205–18. doi:10.1111/j.1365-2559.1995.tb00212.x. PMID 8522284. S2CID 31451585.
3. ^ Sivaram, P.; Jayan, C.; Sulfekar, M. S.; Rahul, M. (2015). "Metastatic Malignant Phyllodes Tumour: An Interesting Presentation as a Parotid Swelling". New Indian Journal of Surgery. 6 (3): 75–77. doi:10.21088/nijs.0976.4747.6315.2.
4. ^ a b Guillot, E.; Couturaud, B.; Reyal, F.; Curnier, A.; Ravinet, J.; Laé, M.; Bollet, M.; Pierga, J. Y.; Salmon, R.; Fitoussi, A.; Breast Cancer Study Group of the Institut Curie (2011). "Management of Phyllodes Breast Tumors". The Breast Journal. 17 (2): 129–137. doi:10.1111/j.1524-4741.2010.01045.x. PMID 21251125. S2CID 7074922.
5. ^ Makhija, Deepa; Shah, Hemanshi; Bothra, Jyoti; Jayaswal, Shalika (2016). "An adolescent with a phyllodes tumor: A case report and review". International Journal of Pediatrics and Adolescent Medicine. 3 (4): 180–183. doi:10.1016/j.ijpam.2016.03.005. ISSN 2352-6467. PMC 6372421. PMID 30805490.
6. ^ Barth RJ Jr; Wells WA; Mitchell SE; Cole BF (2009). "A prospective, multi-institutional study of adjuvant radiotherapy after resection of malignant phyllodes tumors". Ann Surg Oncol. 16 (8): 2288–94. doi:10.1245/s10434-009-0489-2. PMC 5053421. PMID 19424757.
7. ^ This is available at www.phyllodes.com. Tan PH, Thike AA, Tan WJ, Thu MM, Busmanis I, Li H, Chay WY, Tan MH (2012). "Predicting clinical behaviour of breast phyllodes tumours: a nomogram based on histological criteria and surgical margins". J Clin Pathol. 65 (1): 69–76. doi:10.1136/jclinpath-2011-200368. PMID 22049216. S2CID 19848188.
8. ^ Deen SA, McKee GT, Kissin MW (1999). "Differential cytologic features of fibroepithelial lesions of the breast". Diagn. Cytopathol. 20 (2): 53–6. doi:10.1002/(SICI)1097-0339(199902)20:2<53::AID-DC1>3.0.CO;2-T. PMID 9951596.
## External links[edit]
Classification
D
* ICD-10: C50, D24, D48.6
* ICD-9-CM: 217
* ICD-O: M9020
* MeSH: D003557
* DiseasesDB: 3396
External resources
* eMedicine: med/500
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
* v
* t
* e
Breast cancer
Types
Ductal
* Ductal carcinoma in situ (DCIS): Paget's disease of the breast
* Comedocarcinoma
* Invasive ductal carcinoma (IDC)
* Intraductal papilloma
Lobular
* Lobular carcinoma in situ (LCIS)
* Invasive lobular carcinoma (ILC)
Fibroepithelial/stromal
* Fibroadenoma
* Phyllodes tumor
Other
* Medullary carcinoma
* Male breast cancer
* Inflammatory breast cancer
* Precursor lesions
* Atypical ductal hyperplasia
* Nipple adenoma
General
* Breast cancer
* Classification
* Risk factors
* Alcohol
* Hereditary breast—ovarian cancer syndrome
* BRCA mutation
* Screening
* Treatment
Other
* Breast cancer awareness
* Pink ribbon
* National Breast Cancer Awareness Month
* List of people with breast cancer
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Phyllodes tumor
|
c0010701
| 27,161 |
wikipedia
|
https://en.wikipedia.org/wiki/Phyllodes_tumor
| 2021-01-18T18:36:14 |
{"gard": ["9514"], "mesh": ["D003557"], "icd-9": ["217"], "icd-10": ["D48.6", "C50", "D24"], "orphanet": ["180261"], "wikidata": ["Q1149070"]}
|
A number sign (#) is used with this entry because this form of methemoglobinemia is caused by heterozygous mutation in the alpha-globin gene (HBA1; 141900) that produces M hemoglobin, a methemoglobin not amenable to reduction, or a hemoglobin with an unusual susceptibility to oxidizing agents.
Description
Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain (141900) is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993).
Clinical Features
Gerald and Efron (1961) reviewed 5 different M hemoglobins, all of which caused chronic cyanosis due to the occurrence of methemoglobinemia.
Inheritance
Methemoglobinemia caused by mutation in the alpha-globin gene is inherited in an autosomal dominant manner.
Molecular Genetics
Hayashi et al. (1969) noted that 4 M hemoglobins, Hb M (Iwate) (141800.0093), Hb M (Hyde Park) (141900.0164), Hb M (Boston) (114800.0092), and Hb M (Saskatoon) (141900.0165), have a structural abnormality in the proximal or the distal histidine of the alpha or beta subunits of the Hb molecule and have the same kind of amino acid substitution, histidine to tyrosine. These 4 amino acids are critical to the binding of the heme group. A fifth variant of Hb M, Hb M (Milwaukee-1) (141900.0165), has a valine to glutamic acid substitution at a position 4 residues or one helical turn from the distal histidine. Mansouri and Lurie (1993) noted that in this Hb variant, the carboxylic group of the glutamic acid forms a bond with iron, thus stabilizing it in the oxidized form.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
METHEMOGLOBINEMIA, ALPHA TYPE
|
c4693798
| 27,162 |
omim
|
https://www.omim.org/entry/617973
| 2019-09-22T15:44:11 |
{"omim": ["617973"], "orphanet": ["330041"], "synonyms": ["M hemoglobinopathy"]}
|
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
Sammalisto et al. (2005) combined the primary genotype data from 4 genomewide scans and performed variance components linkage analyses for stature on the pooled dataset of 1,417 individuals from 277 families. In males-only analyses, Sammalisto et al. (2005) found significant linkage to stature on chromosome 1p21, with a peak multipoint lod score of 4.25 at marker D1S1631.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
STATURE QUANTITATIVE TRAIT LOCUS 7
|
c1853277
| 27,163 |
omim
|
https://www.omim.org/entry/609822
| 2019-09-22T16:05:30 |
{"omim": ["609822"]}
|
Khalifa and Graham (1994) described what they considered to be a previously undescribed pterygium colli/mental retardation syndrome. The proband was the offspring of a 30-year-old mother and a 56-year-old father. Delivery at 38 weeks' gestation was by cesarean section because of cephalopelvic disproportion. At birth he had severe webbing of the neck, edema of the dorsum of the hands and feet, and hypotonia. The mother was noted to have webbing of the neck. Their chromosomes were normal. At the age of 18 years, height and head circumference were at the 50th percentile. Craniofacial abnormalities included brachycephaly, epicanthus inversus, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears. The digits were remarkable for proximally displaced small thumbs, widened interphalangeal joints, and broad terminal phalanges. The mother had similar but less severe manifestations. Khalifa and Graham (1994) concluded that this disorder was different from Noonan syndrome (163950) because of the normal stature and different from the pterygium/mental retardation syndrome (177980) described by Haspeslagh et al. (1985) because of the normal stature and the differences in craniofacial anomalies. It was also different from the isolated pterygium colli (177990) described by Graham and Smith (1981). They suggested that the inheritance was either X-linked dominant or autosomal dominant.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Brachycephaly Ears \- Prominent ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Angulated eyebrows \- Upward slanted palpebral fissures \- Ptosis \- Hypertelorism Neck \- Pterygium colli SKELETAL Hands \- Proximally displaced small thumbs \- Widened interphalangeal joints \- Broad terminal phalanges MUSCLE, SOFT TISSUES \- Edema of the dorsum of hands and feet NEUROLOGIC Central Nervous System \- Mental retardation \- Hypotonia ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES
|
c1838562
| 27,164 |
omim
|
https://www.omim.org/entry/600159
| 2019-09-22T16:16:31 |
{"mesh": ["C535831"], "omim": ["600159"], "orphanet": ["2988"]}
|
Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Short bowel syndrome
|
c0036992
| 27,165 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=104008
| 2021-01-23T17:08:23 |
{"gard": ["1502"], "mesh": ["D012778"], "umls": ["C0036992"]}
|
Medical term for seeing everything tinted in yellow
Xanthopsia is a color vision deficiency in which there is a predominance of yellow in vision due to a yellowing of the optical media of the eye. The most common cause is digoxin's inhibitory action on the sodium pump, and the development of cataracts which can cause a yellow filtering effect.
It has been suggested that Digitalis-derived digoxin, used to treat heart failure, induced xanthopsia is responsible for the yellow tinting exhibited by many of Van Gogh's works.[1]
Xanthopsia is also a rare side-effect of jaundice, in which bilirubin may be deposited into the eye in sufficient quantity to produce a yellow tint to the vision.[2]
## See also[edit]
* Cyanopsia
* Van Gogh syndrome
## References[edit]
1. ^ "Vincent van Gogh". Psych.ucalgary.ca. Retrieved 2015-07-09.
2. ^ Weatherall, D. J.; Ledingham, J. G. G.; Warrell, D. A. (1996). Oxford Textbook of Medicine. 3rd ed. Oxford: Oxford University Press. 2055.
## External links[edit]
* Acquired Colour Vision Deficiencies —University of Calgary, Vision & Aging Lab
This medical symptom article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This article about the eye is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Xanthopsia
|
c0221185
| 27,166 |
wikipedia
|
https://en.wikipedia.org/wiki/Xanthopsia
| 2021-01-18T18:59:53 |
{"umls": ["C0221185"], "wikidata": ["Q389157"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Psychosocial short stature" – news · newspapers · books · scholar · JSTOR (January 2010) (Learn how and when to remove this template message)
Psychosocial short stature
Other namesPsychosocial dwarfism,[1][2] psychogenic or stress dwarfism, Kaspar Hauser syndrome[3]
SpecialtyEndocrinology
Psychosocial short stature (PSS) is a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.
The symptoms include decreased growth hormone (GH) and somatomedin secretion, very short stature, weight that is inappropriate for the height, and immature skeletal age. This disease is a progressive one, and as long as the child is left in the stressing environment, their cognitive abilities continue to degenerate. Though rare in the population at large, it is common in feral children and in children kept in abusive, confined conditions for extended lengths of time. It can cause the body to completely stop growing but is generally considered to be temporary; regular growth will resume when the source of stress is removed.
## Contents
* 1 Cause
* 2 Society and culture
* 2.1 Fictional characters
* 3 References
* 4 External links
## Cause[edit]
Children with PSS have extremely low levels of growth hormone. These children possibly have a problem with growth hormone inhibiting hormone (GHIH) or growth hormone releasing hormone (GHRH). The children could either be unresponsive to GHRH, or too sensitive to GHIH.
Children who have PSS exhibit signs of failure to thrive. Even though they appear to be receiving adequate nutrition, they do not grow and develop normally compared to other children of their age.
An environment of constant and extreme stress causes PSS. Stress-released hormones in the body such as epinephrine and norepinephrine engage what is known as the 'fight or flight' response. The heart speeds up and the body diverts resources away from processes that are not immediately important; in PSS, the production of growth hormone (GH) is thus affected. As well as lacking growth hormone, children with PSS exhibit gastrointestinal problems due to the large amounts of epinephrine and norepinephrine, resulting in their bodies lacking proper digestion of nutrients and further affecting development.
While the cure for PSS is questionable, some studies show that placing the child affected with the disease in a foster or group home increases growth rate and socialization skills.
## Society and culture[edit]
One case was a child who was admitted to a hospital with an extremely low weight. One nurse took over his care and he began to rapidly gain weight and his growth hormone levels increased during this time. The child was so dependent on the nurse emotionally that when she left, his levels returned to what they had been when he was admitted to the hospital, and once she returned, they stabilized once more.[4]
When a police raid in 1987 released the children held by an Australian cult known as The Family, one twelve-year-old girl weighed under 20 kg (44 lbs) and was under 120 cm (4 ft) tall. She grew 11 cm (4 in) in the following year and her growth hormone levels returned to normal.[5]
### Fictional characters[edit]
In Günter Grass's 1959 novel The Tin Drum (Die Blechtrommel), the character Oskar Matzerath "willfully stunted his growth at three feet tall as a three-year-old, although later in the novel he grows to four feet one inch"[6] in reaction to the stress he experiences – the petit-bourgeois German society.
In the novel Les Misérables by Victor Hugo, eight-year old Cosette had been abused, neglected and enslaved by the Thènardier family. The extreme abuse and neglect she faces is described as very stressful for her, and as a result she is described as simultaneously being as short as a child half her age and having an expression more appropriate for an older woman. She recovers after she is adopted by Jean Valjean and is of average height as an adult.[citation needed]
In One Flew Over the Cuckoo's Nest, Chief Bromden claims that one of Nurse Ratched's orderlies, Williams, a black man with dwarfism, gained his short stature from seeing white men rape his mother.[7]
In the novel Flowers in the Attic by V.C. Andrews, twins Cory and Carrie Dollanganger are locked in an attic (with their two older siblings). The stress of their grandmother's abuse and lack of attention from their mother — along with arsenic poisoning and lack of outdoor play opportunities — stunts the twins' growth.[8] Later in the series, Carrie is described as being eight years old, yet her physical appearance is that of a three-year-old.[9]
## References[edit]
1. ^ Duché DJ (2002). "[Consequences of family violence on children's health]". Bull. Acad. Natl. Med. (in French). 186 (6): 963–9, discussion 969–70. PMID 12587335.
2. ^ Sirotnak, Andrew P (March 19, 2008). "Child Abuse & Neglect: Psychosocial Dwarfism". eMedicine. WebMD. Retrieved January 17, 2010.
3. ^ Money, John (July 1992). The Kaspar Hauser Syndrome of "Psychosocial Dwarfism": Deficient Statural, Intellectual, and Social Growth Induced by Child Abuse. Prometheus Books. ISBN 978-0-87975-754-0.
4. ^ Saenger P, Levine LS, Wiedemann E, Schwartz E, Korth-Schutz S, Pareira J, Heinig B, New MI (1977). "Somatomedin and growth hormone in psychosocial dwarfism". Pädiatrie und Pädologie. Supplementum. Springer Verlag (5): 1–12. ISSN 0300-9556. PMID 917570.
5. ^ Hamilton-Byrne, S. (1995). "Hierarchies of organisation within cults" (PDF). The Skeptic. 15 (3): 25–7. Retrieved January 17, 2010. "My name is Sarah Hamilton-Byrne. I grew up in a cult called 'The Family'... Cassandra, my youngest sister, was 12 years old but under 120 cm and weighed under 20 kg. She looked like a four- or five-year-old."
6. ^ Grass's own description
7. ^ Kesey, Ken. One Flew Over the Cuckoo's Nest. Signet. p. 31. ISBN 978-0451163967.
8. ^ "Flowers In The Attic Plot Summary" (PDF). Lady Xanax. Retrieved 28 May 2017.
9. ^ Andrews, V.C. Petals On The Wind. Pocket Books. p. 4. ISBN 0671729470.
## External links[edit]
Classification
D
* ICD-10: E34.3
* MeSH: C535569
* Psychosocial dwarfism from FeralChildren.com Archive index at the Wayback Machine
* Sarr M, Job JC, Chaussain JL, Golse B (1987). "Psychogenic growth retardation. Critical study of diagnostic data". Arch. Fr. Pediatr. (in French). 44 (5): 331–8. PMID 2441679.
* v
* t
* e
Growth and height disorder due to endocrine malfunction
* Dwarfism
* Primordial dwarfism
* Laron syndrome
* Psychosocial
* Ateliosis
* Gigantism
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Psychosocial short stature
|
c1455735
| 27,167 |
wikipedia
|
https://en.wikipedia.org/wiki/Psychosocial_short_stature
| 2021-01-18T19:04:55 |
{"gard": ["9440"], "mesh": ["C535569"], "umls": ["C1455735"], "icd-10": ["E34.3"], "wikidata": ["Q302128"]}
|
Lymphoepithelioma-like carcinoma
Low magnification micrograph of a lymphoepithelioma-like carcinoma showing the characteristic squamoid nests in association with clusters of lymphocytes. H&E stain.
SpecialtyOncology
Lymphoepithelioma-like carcinoma (LELC) is a medical term referring to a histological variant of malignant tumor arising from the uncontrolled mitosis of transformed cells originating in epithelial tissue (or in cells that display epithelial characteristics) that bear microscopic resemblance to lymphoepithelioma (nasopharyngeal carcinoma).
There is considerable variation in the classification of LELC—while it is perhaps most commonly considered a subtype of squamous cell carcinoma, it can also be classified as a form of large cell carcinoma (i.e. when occurring in the lung),[1] and can be considered as a separate, unique entity.[2]
In most anatomical sites, many cases are associated with the Epstein-Barr virus.[3]
In the breast, the macroscopic, microscopic, epidemiologic, and prognostic features of LELC are very similar to medullary carcinoma; EBV status is one differentiator.[4]
## See also[edit]
* Nasopharyngeal carcinoma
* Lymphoepithelioma
## References[edit]
1. ^ Travis, William D; Brambilla, Elisabeth; Muller-Hermelink, H Konrad; et al., eds. (2004). Pathology and Genetics of Tumours of the Lung, Pleura, Thymus and Heart (PDF). World Health Organization Classification of Tumours. Lyon: IARC Press. ISBN 92-832-2418-3. Archived from the original (PDF) on 23 August 2009. Retrieved 27 March 2010.
2. ^ Skinner, NE.; Horowitz, RI.; Majmudar, B. (Oct 2000). "Lymphoepithelioma-like carcinoma of the uterine cervix". South Med J. 93 (10): 1024–7. doi:10.1097/00007611-200010000-00017. PMID 11147469.
3. ^ Mayer, EK.; Beckley, I.; Winkler, MH. (Mar 2007). "Lymphoepithelioma-like carcinoma of the urinary bladder—diagnostic and clinical implications". Nat Clin Pract Urol. 4 (3): 167–71. doi:10.1038/ncpuro0725. PMID 17347662.
4. ^ Lespagnard, L.; Cochaux, P.; Larsimont, D.; Degeyter, M.; Velu, T.; Heimann, R. (Apr 1995). "Absence of Epstein-Barr virus in medullary carcinoma of the breast as demonstrated by immunophenotyping, in situ hybridization and polymerase chain reaction". Am J Clin Pathol. 103 (4): 449–52. PMID 7726142.
## External links[edit]
Classification
D
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Lymphoepithelioma-like carcinoma
|
c0334254
| 27,168 |
wikipedia
|
https://en.wikipedia.org/wiki/Lymphoepithelioma-like_carcinoma
| 2021-01-18T18:36:52 |
{"umls": ["CL017873", "C0334254"], "orphanet": ["289682"], "wikidata": ["Q6708266"]}
|
Renal medullary carcinoma
Location of renal medulla.
SpecialtyOncology/nephrology
Renal medullary carcinoma is a rare type of cancer that affects the kidney. It tends to be aggressive, difficult to treat, and is often metastatic at the time of diagnosis. Most individuals with this type of cancer have sickle cell trait or rarely sickle cell disease, suggesting that the sickle cell trait may be a risk factor for this type of cancer.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Mechanism
* 4 Diagnosis
* 4.1 Classification
* 5 Prevention
* 6 Management
* 7 Prognosis
* 8 Epidemiology
* 9 History
* 10 References
* 11 External links
## Signs and symptoms[edit]
In a case series of 34 patients, Davis and colleagues reported the following signs and symptoms:
* macroscopically visible (gross) hematuria (60%)
* abdominal or back/flank pain (50%)
* significant weight loss (25%)
Other researchers have reported a palpable renal mass[1] or enlarged lymph nodes.[2]
## Causes[edit]
The etiology of renal medullary carcinoma is still not completely understood. However, the majority of individuals diagnosed with this type of cancer have had sickle cell trait, in which the person carries one normal copy of the hemoglobin A gene (HbA) and one copy of the hemoglobin A gene harboring the genetic mutation found in sickle cell disease (HbS). These individuals do not have sickle cell disease but can manifest symptoms such as kidney damage over the course of their lives. The other genetic or environmental factors that contribute to the risk of renal medullary carcinoma are unknown.[citation needed]
## Mechanism[edit]
The finding that virtually all people affected by renal medullary carcinoma carry at least one copy of the HbS mutation suggests that sickle cell trait somehow predisposes to this type of cancer.[3] The precise mechanism is unknown, but red blood cells with a sickle cell configuration have been identified in pathology specimens.[2]
## Diagnosis[edit]
The diagnosis of renal medullary carcinoma is typically made after individuals with sickle cell trait present with the typical signs and symptoms outlined above, in combination with radiographic imaging (usually abdominal/pelvic CT scan) studies and ultimately surgical biopsy and pathological examination of the tumor. Findings on radiographic examination are non-specific and can reveal a mass deep within the kidney.[4] Histopathology studies show a distinctive pattern that can be distinguished from other renal tumors.[1]
### Classification[edit]
Renal medullary carcinoma has been termed "the seventh sickle cell nephropathy" because it is found almost exclusively in individuals with sickle cell trait or occasionally in those with sickle cell disease.[3]
## Prevention[edit]
Renal medullary carcinoma is extremely rare and it is not currently possible to predict those individuals with sickle cell trait who will eventually develop this cancer. It is hoped that early detection could result in better outcomes but screening is not feasible.
## Management[edit]
This cancer is typically aggressive, presents at an advanced stage when the cancer has already metastasized, and is resistant to chemotherapy. It therefore poses a significant management challenge.[5] Current treatment options include surgical resection and chemotherapy with a variety of agents, including (but not limited to) ifosfamide, etoposide, carboplatin, and topotecan.[6] A recent study looked at the use of methotrexate, vinblastine, doxorubicin, and cisplatin in 3 patients and saw a partial response and longer survival than historical reports.[7] Carboplatin, gemcitibine, and paclitaxel provided a complete response in a patient with advanced disease.[8] The role of radiation is unclear; some tumors have shown a response to radiation. Due to the apparent propensity for the tumor to spread to the central nervous system, it has been suggested that prophylactic craniospinal irradiation should be considered.[9]
## Prognosis[edit]
Since the cancer most often presents at an advanced stage, prognosis is generally very poor, with median survival times of 3 months (range 1–7 months).[5] Longer survival of beyond one year was reported in one patient[6] and of up to eight years in one individual whose tumor was well circumscribed and non-metastatic at the time of diagnosis,[10] suggesting that early detection could dramatically improve survival.
## Epidemiology[edit]
As of 2009, there have been approximately 120 reported cases of renal medullary carcinoma.[11] In every instance except for one, the patients were positive for cell sickling. Wilms' tumor, the most common renal tumor of childhood, is responsible for 6-7% of childhood cancer whereas all remaining primary renal tumors (among which is included renal medullary carcinoma) collectively account for less than 1% of all childhood cancer and less than 10% of primary kidney tumors in childhood.[12]
## History[edit]
Renal medullary carcinoma was first described as a clinicopathologic entity in 1995.[3]
## References[edit]
1. ^ a b Assad, Lina; Resetkova, Erika; Oliveira, Victor L.; Sun, Wei; Stewart, John M.; Katz, Ruth L.; Caraway, Nancy P. (2004). "Cytologic features of renal medullary carcinoma". Cancer. 105 (1): 28–34. doi:10.1002/cncr.20764. PMID 15593260.
2. ^ a b Warren, K. E.; Gidvani-Diaz, V.; Duval-Arnould, B. (1999). "Renal Medullary Carcinoma in an Adolescent with Sickle Cell Trait". Pediatrics. 103 (2): E22. doi:10.1542/peds.103.2.e22. PMID 9925868.
3. ^ a b c Davis, Charles J.; Mostofi, F. K.; Sesterhenn, Isabell A. (1995). "Renal Medullary Carcinoma the Seventh Sickle Cell Nephropathy". The American Journal of Surgical Pathology. 19 (1): 1–11. doi:10.1097/00000478-199501000-00001. PMID 7528470.
4. ^ Baig, M. A.; Lin, Y. S.; Rasheed, J; Mittman, N (2006). "Renal medullary carcinoma". Journal of the National Medical Association. 98 (7): 1171–4. PMC 2569460. PMID 16895289.
5. ^ a b Avery, Robert A.; Harris, Jules E.; Davis, Charles J.; Borgaonkar, Digamber S.; Byrd, John C.; Weiss, Raymond B. (1996). "Renal medullary carcinoma: Clinical and therapeutic aspects of a newly described tumor". Cancer. 78 (1): 128–32. doi:10.1002/(SICI)1097-0142(19960701)78:1<128::AID-CNCR18>3.0.CO;2-1. PMID 8646708.
6. ^ a b Heuermann, K. G.; Romero, J. R.; Abromowitch, M. A.; Gordon, B. G.; Gross, T. G. (1999). "Fatal Coagulase-Negative Staphylococci Infection After Bone Marrow Transplantation in a Patient with Persistent Adverse Reactions to Vancomycin". Journal of Pediatric Hematology/Oncology. 21 (1): 80–1. doi:10.1097/00043426-199901000-00019. PMID 10029821.
7. ^ Rathmell, W. Kimryn; Monk, J. Paul (2008). "High-Dose-Intensity MVAC for Advanced Renal Medullary Carcinoma: Report of Three Cases and Literature Review". Urology. 72 (3): 659–63. doi:10.1016/j.urology.2008.05.009. PMID 18649931.
8. ^ Walsh, Alexandra; Kelly, David R.; Vaid, Yoginder N.; Hilliard, Lee M.; Friedman, Gregory K. (2010). "Complete response to carboplatin, gemcitabine, and paclitaxel in a patient with advanced metastatic renal medullary carcinoma". Pediatric Blood & Cancer. 55 (6): 1217–20. doi:10.1002/pbc.22611. PMID 20979179.
9. ^ Walsh, Alexandra M.; Fiveash, John B.; Reddy, Alyssa T.; Friedman (2011). "Response to Radiation in Renal Medullary Carcinoma: A Case Report and Review of the Literature". Rare Tumors. 3 (3): 1156–61. doi:10.4081/rt.2011.e32. PMC 3208419. PMID 22066039.
10. ^ Watanabe, Isabela C; Billis, Athanase; Guimarães, Marbele S; Alvarenga, Marcelo; De Matos, Amilcar C; Cardinalli, Izilda A; Filippi, Renee Z; De Castro, Marilia G; Suzigan, Sueli (2007). "Renal medullary carcinoma: Report of seven cases from Brazil". Modern Pathology. 20 (9): 914–20. doi:10.1038/modpathol.3800934. PMID 17643096.
11. ^ Tsaras, Geoffrey; Owusu-Ansah, Amma; Boateng, Freda Owusua; Amoateng-Adjepong, Yaw (2009). "Complications Associated with Sickle Cell Trait: A Brief Narrative Review". The American Journal of Medicine. 122 (6): 507–12. doi:10.1016/j.amjmed.2008.12.020. PMID 19393983.
12. ^ Broecker, Bruce (2000). "Non–Wilms' Renal Tumors in Children". Urologic Clinics of North America. 27 (3): 463–9, ix. doi:10.1016/S0094-0143(05)70094-X. PMID 10985146.
## External links[edit]
Classification
D
* ICD-O: M8319/3
* v
* t
* e
Tumors of the urinary and genital systems
Kidney
Glandular and epithelial neoplasm
* Renal cell carcinoma
* Renal oncocytoma
Mixed tumor
* Wilms' tumor
* Mesoblastic nephroma
* Clear-cell sarcoma of the kidney
* Angiomyolipoma
* Cystic nephroma
* Metanephric adenoma
by location
* Renal medullary carcinoma
* Juxtaglomerular cell tumor
* Renal medullary fibroma
Ureter
* Ureteral neoplasm
Bladder
* Transitional cell carcinoma
* Squamous-cell carcinoma
* Inverted papilloma
Urethra
* Transitional cell carcinoma
* Squamous-cell carcinoma
* Adenocarcinoma
* Melanoma
Other
* Malignant fibrous histiocytoma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Renal medullary carcinoma
|
c4049328
| 27,169 |
wikipedia
|
https://en.wikipedia.org/wiki/Renal_medullary_carcinoma
| 2021-01-18T18:37:45 |
{"gard": ["13175"], "orphanet": ["319319"], "synonyms": [], "wikidata": ["Q7312494"]}
|
A number sign (#) is used with this entry because Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is caused by homozygous or compound heterozygous mutation in the SLC52A2 gene (607882) on chromosome 8q24.
Description
Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014).
For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (211530).
Clinical Features
Megarbane et al. (2000) reported a large inbred Lebanese family with 4 patients, including 3 males and 1 female, with severe features of Brown-Vialetto-Van Laere syndrome. The proband showed normal early childhood development until about age 2.5 years, when he developed progressively abnormal hearing and walking. Physical examination at age 8 years showed profound deafness with absent brainstem auditory-evoked potentials, tongue fasciculations, bulbar dysfunction, scoliosis, and axial and limb hypotonia with little spontaneous movements. He had severe neck weakness with an inability to hold up his head, proximal and distal limb weakness and atrophy, and claw hands. Deep tendon reflexes and plantar responses were absent. Intelligence appeared to be normal. He died of respiratory failure at age 11 years. His younger brother was similarly affected, and also had facial paresis, inability to close the eyes tightly, absent pupillary reflexes, and poor gag reflex, which indicated multiple cranial nerve abnormalities. EMG was neurogenic with fibrillation activity. He died suddenly at age 7 years. The boys' sister was reportedly affected, but died at age 4 years. A male first cousin had slightly less severe muscle weakness and slightly later onset at age 3.5 years, but also showed deafness and diffuse muscle weakness and atrophy.
Johnson et al. (2012) reported an 11-year-old Scottish girl with BVVLS2. She presented with ataxic gait at age 18 months. At age 6 years, she showed weakness of the fingers, which rapidly progressed to severe upper limb weakness over the course of a few weeks. She also developed bilateral sensorineural hearing loss. By 7 years of age, she was wheelchair-bound due to axial hypotonia and weakness, but could walk with support as her lower limbs retained strength. Other features included optic atrophy, sleep hypoventilation, and severe axonal sensorimotor neuropathy. Metabolic testing showed evidence of carnitine deficiency and a urinary organic acid profile suggestive of MADD (231680). Treatment with high-dose riboflavin resulted in the normalization of her acylcarnitine and urinary organic acid profiles. She also showed quantitative improvements in her pulmonary function, brainstem auditory evoked potentials, and visual evoked potentials, and some improvement in upper limb strength.
Haack et al. (2012) reported a girl with BVVLS2. After normal psychomotor development, she presented at age 3 years with impaired hearing, clumsiness, impaired walking due to ataxia, and vertical nystagmus. She also developed progressive optic atrophy with visual impairment and aggressive behavior. Neurologic studies showed absent reflexes in the lower extremities and an axonal sensory neuropathy. She was confined to a wheelchair from the age of 5 years. At age 5.5 years, she showed right-sided facial nerve palsy and tongue wasting with fasciculations. Laboratory analysis showed increased levels of several acylcarnitine and hydroxy-acylcarnitine species; however, plasma riboflavin was normal. Treatment with oral riboflavin supplementation resulted in improvement in fine motor skills and assisted gait, as well as normalization of laboratory findings.
Ciccolella et al. (2013) reported a boy with severe, early-onset BVVLS2. He had normal early psychomotor development and began to walk at age 12 months. At age 2 years, he presented with progressive dysphonia and exercise intolerance with dyspnea and cyanosis. He later developed sensorineural hearing loss, decreased visual acuity, shoulder and axial muscle weakness, kyphosis, wasting and weakness of the hand muscles, and walking difficulties with foot drop. The disorder was rapidly progressive; at age 3 years, he was hospitalized for acute respiratory failure and died.
Foley et al. (2014) reported 18 patients from 13 families with BVVLS2 confirmed by genetic analysis. One of the patients had previously been reported by Johnson et al. (2012). The most common presenting symptom was an ataxic gait, reported in 9 (50%) of 18 patients, secondary to a progressive sensory neuropathy. Symptom onset occurred in childhood, but varied between ages 7 months (nystagmus) and 8 years (ataxic gait). Most (93%) patients had optic atrophy, and all had sensorineural hearing loss. Other features included tongue fasciculations, respiratory distress, rapidly progressive upper limb weakness, weakness of the neck muscles, and areflexia. All had normal cognition despite significant visual and hearing impairment. Ten (59%) of 17 patients tested had abnormal acylcarnitine profiles. Neurophysiologic studies were consistent with an axonal sensorimotor neuropathy, and sural nerve biopsy showed loss of large diameter myelinated axons without regenerative features.
Clinical Management
Foley et al. (2014) found that high-dose riboflavin resulted in significant and sustained clinical and biochemical improvement in patients with BVVLS2 confirmed by genetic analysis. Two patients were reported in detail: a child who presented at age 22 months and was started on riboflavin immediately with favorable response within a month, and a patient (Johnson et al., 2012) who was started on riboflavin therapy at age 10 years with a favorable response within 3 months.
Inheritance
The transmission pattern of BVVLS2 in the family reported by Megarbane et al. (2000) was consistent with autosomal recessive inheritance.
Molecular Genetics
In affected members of a large consanguineous Lebanese family with severe Brown-Vialetto-Van Laere syndrome-2, Johnson et al. (2012) identified a homozygous mutation in the SLC52A2 gene (G306R; 607882.0001). A Scottish girl with the disorder was also found to be homozygous for the G306R mutation.
In a girl with BVVLS2, Haack et al. (2012) identified compound heterozygous mutations in the SLC52A2 gene (607882.0002 and 607882.0003). Transfection of the mutations in HEK293 cells showed that both caused a significant decrease in SLC52A2 transporter activity compared to wildtype.
In a boy with severe early-onset BVVLS2 resulting in death at age 3, Ciccolella et al. (2013) identified compound heterozygous mutations in the SLC52A2 gene (607882.0004-607882.0005). Each of the unaffected parents was heterozygous for 1 of the mutations. Patient cells showed significantly decreased riboflavin transport (about 29%) compared to controls.
By Sanger sequencing of the SLC52A2 gene in 78 patients of various origins with a phenotype of cranial neuropathies and sensorimotor neuropathy with or without respiratory insufficiency from 21 medical centers, Foley et al. (2014) identified 8 different biallelic mutations (see, e.g., 607882.0001; 607882.0003; 607882.0006-607882.0007) in 13 probands (including the Scottish patient previously reported by Johnson et al., 2012) and 5 affected family members. The most common mutation was G306R, which was found in homozygous state in 3 Lebanese families and in compound heterozygous state in 2 families and 3 singleton patients. In vitro functional expression studies showed that the mutations caused reduced or absent riboflavin uptake and reduced riboflavin transporter protein expression.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Facial muscle weakness Ears \- Hearing loss, sensorineural \- Absent brainstem auditory-evoked responses Eyes \- Absent pupillary reflex \- Optic atrophy \- Nystagmus \- Visual loss Mouth \- Tongue fasciculations Neck \- Neck muscle weakness RESPIRATORY \- Respiratory insufficiency \- Sleep hypoventilation (rare) ABDOMEN Gastrointestinal \- Dysphagia (in some patients) SKELETAL Spine \- Scoliosis (in some patients) \- Kyphoscoliosis (in some patients) Hands \- Claw hands MUSCLE, SOFT TISSUES \- Muscle weakness, proximal, distal, and axial, severe \- Upper limb muscle weakness may be more severe than lower limb weakness \- Hypotonia \- Muscle atrophy, diffuse, severe \- Neurogenic changes seen on EMG \- Fibrillations NEUROLOGIC Central Nervous System \- Cranial nerve palsies \- Bulbar palsy \- Ataxia \- Loss of independent ambulation \- Decreased spontaneous movements \- Inability to hold head up \- Clumsiness \- Cognition is preserved Peripheral Nervous System \- Areflexia \- Axonal sensorimotor neuropathy \- Sural nerve biopsy shows loss of large myelinated fibers Behavioral Psychiatric Manifestations \- Aggressive behavior (in some patients) LABORATORY ABNORMALITIES \- Abnormal acylcarnitine profiles \- Organic aciduria MISCELLANEOUS \- Onset in first few years of life \- Progressive disorder \- Variable severity \- Early death from respiratory failure may occur \- Some patients show significant clinical improvement with riboflavin supplementation MOLECULAR BASIS \- Caused by mutation in the solute carrier family 52 (riboflavin transporter), member 2 gene (SLC52A2, 607882.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
c0796274
| 27,170 |
omim
|
https://www.omim.org/entry/614707
| 2019-09-22T15:54:23 |
{"mesh": ["C537111"], "omim": ["614707"], "orphanet": ["97229"], "genereviews": ["NBK299312"]}
|
Syndactyly
Newborn baby hand showing complete complex syndactyly of two fingers
SpecialtyMedical genetics
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and diprotodontia,[1] but is an unusual condition in humans. The term is from Greek σύν meaning "together" and δάκτυλος meaning "finger".
## Contents
* 1 Classification
* 2 Genetics
* 3 Management
* 3.1 Techniques
* 3.2 Complications
* 4 History
* 5 See also
* 6 References
* 7 External links
## Classification[edit]
The hand of a person with Greig cephalopolysyndactyly with syndactyly of several digits
Syndactyly can be simple or complex.
* In simple syndactyly, adjacent fingers or toes are joined by soft tissue.
* In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly.
Partial simple syndactyly of the second and third toes
Syndactyly can be complete or incomplete.
* In complete syndactyly, the skin is joined all the way to the tip of the involved digits.
* In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits.
Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly.
Fenestrated syndactyly, also known as acrosyndactyly or terminal syndactyly,[2] means the skin is joined for most of the digit but in a proximal area there is gap in the syndactyly with normal skin. This type of syndactyly is found in amniotic band syndrome.
Simple syndactyly can be full or partial, and is present at birth (congenital). In early human fetal development, webbing (syndactyly) of the toes and fingers is normal. At about 6 weeks of gestation, apoptosis takes place due to a protein named sonic hedgehog, also known as SHH, which dissolves the tissue between the fingers and toes, and the webbing disappears. In some fetuses, this process does not occur completely between all fingers or toes and some residual webbing remains.
## Genetics[edit]
Five types[3] of syndactyly have been identified in humans. The corresponding loci associated with these types and their common phenotypical expression are as follows:
* type I: 2q34-q36;[4] webbing occurs between middle and ring fingers and/or second and third toes.
* type II: 2q31;[5] also involves long and ring fingers, but has a sixth finger merged in between.
* type III: 6q21-q23; small finger is merged into the ring finger.
* type IV: 7q36;[6] involves all fingers and/or toes.
* type V: 2q31-q32; similar to type I, but the metacarpals and metatarsals may also be fused.
Radiograph of Type 1 syndactyly of the hands (no bony involvement)
## Management[edit]
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Syndactyly of the border digits (thumb/index finger or ring/small fingers) is treated at early age to prevent the larger digit from curving towards the smaller digit with growth. Typically, syndactyly of these digits is treated at six months of age. The treatment of syndactyly of the other digits is elective and is more commonly performed when the digits have grown, at 18–24 months of age.
### Techniques[edit]
Because the circumference of the conjoined fingers is smaller than the circumference of the two separated fingers, there is not enough skin to cover both digits once they are separated at the time of surgery. Therefore, the surgeon must bring new skin into the area at the time of surgery. This is most commonly done with a skin graft (from groin or anterior elbow). Skin can also be used from the back of the hand by mobilizing it (called a "graftless" syndactyly correction), which requires planning over a period of months prior to surgery.
### Complications[edit]
The most common problem with syndactyly correction is creeping of the skin towards the fingertip over time. This is likely due to tension at the site of the repair between the digits. Additional surgery may be required to correct this. One critique of using skin grafts is that the grafts darken in the years after surgery and become more noticeable. Also, if the skin grafts are harvested from the groin area, the skin may grow hair. Finally, the fingers may deviate after surgery. This is most commonly seen in complex syndactyly (when there has been a bony joining of the fingers).
## History[edit]
The earliest appreciation of syndactyly as a birth anomaly or burn-trauma can be traced back to the Andalusian Muslim surgeon Al-Zahrawi (d. 1013 CE), known in the West as Abulcasis. The French barber surgeon Ambroise Paré also described syndactyly in the sixteenth century.[7]
## See also[edit]
* Dactyly, the arrangement of fingers and toes in different kinds of animals
* Webbed toes, the common name for syndactyly affecting the feet
## References[edit]
1. ^ "Diprotodontia Introduction".
2. ^ Maisels, D.O. (1962). "Acrosyndactyly". British Journal of Plastic Surgery. 15: 166–172. doi:10.1016/s0007-1226(62)80021-6. ISSN 0007-1226. PMID 14468563.
3. ^ Flatt A (1 January 2005). "Webbed fingers". Proceedings (Baylor University. Medical Center). 18 (1): 26–37. doi:10.1080/08998280.2005.11928029. PMC 1200697. PMID 16200145.
4. ^ Bosse K, Betz RC, Lee YA, et al. (2000). "Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36". Am. J. Hum. Genet. 67 (2): 492–7. doi:10.1086/303028. PMC 1287194. PMID 10877983.
5. ^ Sarfarazi, Akarsu; et al. (1995). "Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker" (PDF). Hum. Mol. Genet. 4 (8): 1453–8. doi:10.1093/hmg/4.8.1453. PMID 7581388.
6. ^ Sato D, Liang D, Wu L, et al. (2007). "A syndactyly type IV locus maps to 7q36". Journal of Human Genetics. 52 (6): 561–4. doi:10.1007/s10038-007-0150-5. PMID 17476456.
7. ^ Malik, Sajid (15 February 2012). "Syndactyly: phenotypes, genetics and current classification". European Journal of Human Genetics. 20 (8): 817–824. doi:10.1038/ejhg.2012.14. PMC 3400728. PMID 22333904.
## External links[edit]
Classification
D
* ICD-10: Q70
* ICD-9-CM: 755.1
* OMIM: 185900 186100 186200 186300
* MeSH: D013576
* DiseasesDB: 29330
External resources
* MedlinePlus: 003289
* eMedicine: orthoped/563
Media related to Syndactyly at Wikimedia Commons
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Syndactyly
|
c0039075
| 27,171 |
wikipedia
|
https://en.wikipedia.org/wiki/Syndactyly
| 2021-01-18T18:43:34 |
{"gard": ["13181"], "mesh": ["D013576"], "umls": ["C0039075"], "orphanet": ["93406", "295012", "93403", "93402", "90025", "93404"], "wikidata": ["Q1360044"]}
|
Dendritic cell sarcoma cancer that effects the follicular dendritic cells
Follicular dendritic cell sarcoma
Micrograph showing a follicular dendritic cell sarcoma. The cancer cells are larger and have pale staining nuclei. The smaller (benign) interspersed lymphocytes (darker blue) are common and suggest the diagnosis. H&E stain.
SpecialtyOncology
Follicular dendritic cell sarcoma (FDCS) is an extremely rare neoplasm. While the existence of FDC tumors was predicted by Lennert in 1978, the tumor wasn't fully recognized as its own cancer until 1986 after characterization by Monda et al.[1][2] It accounts for only 0.4% of soft tissue sarcomas, but has significant recurrent and metastatic potential and is considered an intermediate grade malignancy.[3] The major hurdle in treating FDCS has been misdiagnosis. It is a newly characterized cancer, and because of its similarities in presentation and markers to lymphoma, both Hodgkin and Non-Hodgkin subtypes, diagnosis of FDCS can be difficult.[4] With recent advancements in cancer biology better diagnostic assays and chemotherapeutic agents have been made to more accurately diagnose and treat FDCS.[citation needed]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 2.1 Staining
* 2.2 Cellular mutations
* 3 Treatment
* 3.1 CHOP
* 3.2 (PEG)-liposomal doxorubicin
* 3.3 Taxotere and gemcitabine
* 4 Research
* 5 References
* 6 External links
## Signs and symptoms[edit]
Follicular dendritic cells are localized in germinal centers of lymphoid follicles and have an integral role in regulation of the germinal center reaction and present antigens to B cells.[5][6] Most cases of FDCS develop in the lymph nodes, but about 30% develop in extranodal sites. In 1998 the largest study on the disease was a retrospective review with fifty-one patients.[7] Of these fifty-one patients, no conclusive pattern was found in regard to age, sex, race or presentation. The median patient age was 41 (range 14–76), and while most cases presented with cervical and axillary lymphadenopathy, 17 presented in extranodal sites including the liver, spleen, bowel and pancreas.[7] With such a range of patient histories no definitive cause has been linked to FDCS. There has, however, been some evidence that previous exposure to the Epstein Barr Virus (EBV) or diagnosis of Castleman's disease can increase the risk of developing FDCS—medical literature in 2000 reported approximately 12% of all cases of FDC tumors are associated with EBV, with variance in different organs, but the role of EBV remains unclear in FDC tumor pathogenesis; and EBV does not appear to play a role in the transformation process of Castleman's disease to FDC sarcoma because all cases the report found associated with Castleman's disease were EBV negative.[8][9][10]
Symptoms of FDCS vary, and are largely dependent on the part of the body in which the tumor develops. The most common symptom is painless swelling in lymph nodes. This symptom alone, however, is nonconclusive, as it is associated with many other diseases, including the common cold. Other symptoms include cough, sore throat, difficulty swallowing, weight loss and tiredness. In cases that present in extranodal sites outside of the head and neck region, organ specific symptoms are observed.[citation needed]
## Diagnosis[edit]
### Staining[edit]
Proliferation of FDC cells is characteristic of many neoplastic conditions including follicular hyperplasia, follicular lymphoma, nodular lymphocyte predominate Hodgkin’s disease and angioimmunoblastic T-cell lymphoma.[11] Despite finally being recognized as its own disease in 1986, diagnosis of FDCS is still difficult. FDC cells are large, contain two nuclei, and form clusters with lymphocytes making them difficult to distinguish in staining. These cells are best visualized with immunostaining using the FDC markers CD21, CD35, R4/23, clusterin, and KiM4p.[11] Marker analysis has also led to debate over the origin of the cell type; it coexpresses CD45, a leukocyte common antigen, and CD15, a monocyte common antigen.[7] Because of the debate and difficulty of staining, pathologic diagnosis often requires morphologic, cytochemical and electron microscope analysis as well.[7]
### Cellular mutations[edit]
Cellular abnormalities found within the FDCS tumor have been exploited for diagnostic purposes. Characteristically, FDCS have mircotubuloreticular structures (MTRS) and increased levels of intracellular clusterin.[12][13] MTRS contribute to microtubule formation of many structures, including the mitotic spindle, during cell division. This contributes to many of the hallmarks of cancer, including proliferative signaling, growth activation, and replicative immortality.[14] Clusterin is a heterodimeric protein that aids in the clearance of cellular debris and is involved with apoptosis. Clusterin can be stained to help distinguish FDCS and is involved in the many important cancer hallmarks, including resistance to cell death and evading growth suppressors.[14]
## Treatment[edit]
### CHOP[edit]
At the time of the follicular dendritic cell sarcoma discovery, information on the effect of chemotherapy and radiation on it was nonexistent. The best physicians could do was try existing chemotherapeutic agents. With no evidence of the clinical benefit of chemotherapy, many of the first cases were treated solely with complete resection and/or radiation. However, 12 of 31 patients who had surgery alone as primary treatment relapsed.[7] Of the patients who received surgery and radiation, 2 of 8 relapsed.[7] It became apparent that better treatment options were necessary. Being so similar to lymphomas, physicians began using a common leukemia and non-Hodgkin’s lymphoma chemotherapy regimen on FDCS patients: CHOP.[citation needed]
Chemical structure of cyclophosphamide
The CHOP regimen consists of Cyclophosphamide, Doxorubicin, Oncovin, and Prednisone (CHOP). They all exploit different pathways common in cancer cells. Cyclophosphamide slows or stops cell growth. It targets cells that are rapidly dividing, which include cancer cells that are self-sufficient in growth signals and insensitive to antigrowth signals. More importantly, the biological actions of cyclophosphamide are dose-dependent.[15] At high doses it is very cytotoxic; its metabolite phosphoromide adds an alkyl group to the N7 position on guanine resulting in arrested growth and cell death. The metabolite is only formed in cells with low levels of cytoplasmic aldehyde dehydrogenase (ALDH), resulting in relatively low chemotherapeutic toxicity in other non-cancer cells like bone marrow. It is also an immunosuppressant and decreases the inflammatory response. At low doses, while it is less cytotoxic, it shows some anti-angiogenic properties. The mechanism is not fully understood; it is thought that it interferes with the VEGF growth factors produced in and around the tumor microenvironment.[16]
Doxorubicin interferes with cell growth and replication by intercalating in DNA. This stops topoisomerase II from relaxing the DNA strands and inhibits transcription. Recent studies have also shown that doxorubicin may be involved in the PI3K/AKT/mTOR pathway.[17] An important hallmark of cancer, Akt is part of the cell survival pathways by inhibiting apoptosis. There is also evidence that Akt is involved in angiogenesis and vascular maturation.[18] Activation of the PI3K/AKT/mTOR pathway mediates VEGF production in cells.[18] Therefore, doxorubicin has a dual role in cancer treatment: it inhibits cell survival (causes apoptosis), and decreases angiogenesis.[citation needed]
Oncovin, more commonly known as vincristine, is a mitotic inhibitor. It binds to tubulin dimers, inhibiting the assembly of microtubule structures like the cytoskeleton and mitotic spindle. Although this drug still cannot strictly target cancer cells, cancer cells have a higher average turnover of microtubules making them more susceptible to the cytotoxicity of oncovin. Prednisone, the last drug in the CHOP combination therapy is a corticosteroid that acts as an immunosuppressant.[citation needed]
Although some results were seen in FDCS patients treated with CHOP, they were far from consistent. Using a chemotherapy regimen designed for another cancer is an archaic “guess-and-check” way of treating a disease. In 2008 the largest review of FDCS was published as a retrospective analysis on 98 patients and the authors recommended that surgery with no adjuvant treatment be the standard for FDCS treatment.[19] Patients treated with surgery alone had a recurrence rate of 40% and those treated with adjuvant therapy after surgery did not have a significantly different recurrence rate.[19] Radiation and/or chemotherapy had no significant effect in improving patients’ disease-free survival. With developments in our understanding of the hallmarks of cancer, however, novel approaches to specifically targeting and treating FDCS are being developed.[citation needed]
### (PEG)-liposomal doxorubicin[edit]
One such development is in the delivery of doxorubicin. While it is an effective inducer of apoptosis, doxorubicin is quickly filtered out of the body. By loading a PEG-liposome with doxorubicin the circulation time and localization to tumors greatly increases.[3] Cancerous tumors characteristically have extensive angiogenesis and leaky vasculatures, which causes the PEG-liposomes to naturally accumulate in the tumor. This also allows for patients to receive lower and fewer doses of the drug and experience fewer side effects.
### Taxotere and gemcitabine[edit]
Chemical structure of Gemcitabine
Chemical structure of Taxotere
Newer cases are also starting to be treated by taxotere and gemcitabine. Taxotere is similar to Oncovin used in CHOP; it irreversibly binds beta tubulin halting formation of microtubules. Taxotere has an added benefit though; it also phosphorylates bcl-2 to halt the anti-apoptotic pathway.[20] The dual effect of taxotere on integral cancer pathways makes it a more potent drug than Oncovin. Gemcitabene is a nucleoside analog and when incorporated into DNA during replication leads to apoptosis; the fluorine on the 2’ carbon atom stops other nucleosides from attaching.[21] The most important part of this combination therapy, however, is the synergism between the drugs. While researchers are not entirely sure of the mechanism, there is evidence of synergistic effects of taxotere and gemcitabine when used in combination.[22][23] This allows for decreased dosages of each single agent with an increased apoptotic response.[citation needed]
## Research[edit]
All advances in the understanding and treatment of FDCS come from advances made in other cancers. Funding for research is hard to come by and being such a rare cancer FDCS does not receive monetary priority. CHOP, Gemcitabine, and Taxotere were all initially developed for other cancers, but mutually mutated pathways allow for its use in FDCS. The hallmarks of cancer have helped physicians realize that there are biological commonalities between seemingly very different cancer types that can be exploited to develop new and better treatment plans.[14]
## References[edit]
1. ^ Lennert, Karl (1978). Malignant lymphomas other than Hodgkin's disease, histology, cytology, ultrastructure, immunology. Berlin: Springer-Verlag. pp. 59–64. ISBN 978-0-387-08020-8.
2. ^ Monda, Lauren; Warnke, Roger; Rosai, Juan (1986). "A primary lymph node malignancy with features suggestive of dendritic reticulum cell differentiation. A report of 4 cases". The American Journal of Pathology. 122 (3): 562–72. PMC 1888214. PMID 2420185.
3. ^ a b Sharpe, Miriam; Easthope, Stephanie E.; Keating, Gillian M.; Lamb, Harriet M. (2002). "Polyethylene glycol-liposomal doxorubicin: a review of its use in the management of solid and haematological malignancies and AIDS-related Kaposi's sarcoma". Drugs. 62 (14): 2089–126. doi:10.2165/00003495-200262140-00012. PMID 12269857.
4. ^ Fonseca, Rafael; Tefferi, Ayalew; Strickler, John G. (1997). "Follicular dendritic cell sarcoma mimicking diffuse large cell lymphoma: A case report". American Journal of Hematology. 55 (3): 148–55. doi:10.1002/(SICI)1096-8652(199707)55:3<148::AID-AJH6>3.0.CO;2-S. PMID 9256295.
5. ^ Kosco, Marie H.; Gray, David (1992). "Signals Involved in Germinal Center Reactions". Immunological Reviews. 126: 63–76. doi:10.1111/j.1600-065X.1992.tb00631.x. PMID 1597321.
6. ^ Tew, John G.; Kosco, Marie H.; Burton, Gregory F.; Szakal, Andras K. (1990). "Follicular Dendritic Cells as Accessory Cells". Immunological Reviews. 117: 185–211. doi:10.1111/j.1600-065X.1990.tb00573.x. PMID 2258191.
7. ^ a b c d e f Fonseca, R.; Yamakawa, M.; Nakamura, S.; Van Heerde, P.; Miettinen, M.; Shek, T.W. H.; Jensen, O. Myhre; Rousselet, M. C.; Tefferi, A. (1998). "Follicular dendritic cell sarcoma and interdigitating reticulum cell sarcoma: A review". American Journal of Hematology. 59 (2): 161–7. doi:10.1002/(SICI)1096-8652(199810)59:2<161::AID-AJH10>3.0.CO;2-C. PMID 9766802.
8. ^ Biddle, David A.; Ro, Jae Y.; Yoon, Gil S.; Yong, Yap-Whang H.; Ayala, Alberto G.; Ordonez, Nelson G.; Ro, J (2002). "Extranodal Follicular Dendritic Cell Sarcoma of the Head and Neck Region: Three New Cases, with a Review of the Literature". Modern Pathology. 15 (1): 50–8. doi:10.1038/modpathol.3880489. PMID 11796841.
9. ^ Chen Tse-Ching; Kuo Tseng-tong; Ng Kwai-Fong (2001). "Follicular Dendritic Cell Tumor of the Liver: A Clinicopathologic and Epstein-Barr Virus Study of Two Cases". Modern Pathology. 14 (4): 354–360. doi:10.1038/modpathol.3880315. PMID 11301353.
10. ^ Horiguchi H.; Matsui-Horiguchi M.; Sakata H.; Ichinose M.; Yamamoto T.; Fujiwara M.; Ohse H. (February 2004). "Inflammatory pseudotumor-like follicular dendritic cell tumor of the spleen". Pathology International. 54 (2): 124–131. doi:10.1111/j.1440-1827.2004.01589.x. PMID 14720144.
11. ^ a b Chan, John K. C.; Fletcher, Christopher D. M.; Nayler, Simon J.; Cooper, Kum (1997). "Follicular dendritic cell sarcoma". Cancer. 79 (2): 294–313. doi:10.1002/(SICI)1097-0142(19970115)79:2<294::AID-CNCR13>3.0.CO;2-W. PMID 9010103.
12. ^ Ono, Yuri; Terashima, Kazuo; Liu, Aimin; Yokoyama, Munehiro; Yokoshima, Kazuhiro; Mizukami, Miki; Watanabe, Ken; Mochimaru, Yoko; et al. (2009). "Follicular dendritic cell sarcoma with microtubuloreticular structure and virus-like particle productionin vitro". Pathology International. 59 (5): 332–44. doi:10.1111/j.1440-1827.2009.02375.x. PMID 19432677.
13. ^ Grogg, Karen L; Macon, William R; Kurtin, Paul J; Nascimento, Antonio G (2004). "A survey of clusterin and fascin expression in sarcomas and spindle cell neoplasms: strong clusterin immunostaining is highly specific for follicular dendritic cell tumor". Modern Pathology. 18 (2): 260–6. doi:10.1038/modpathol.3800294. PMID 15467709.
14. ^ a b c Hanahan, Douglas; Weinberg, Robert A. (2011). "Hallmarks of Cancer: The Next Generation". Cell. 144 (5): 646–74. doi:10.1016/j.cell.2011.02.013. PMID 21376230.
15. ^ Nicolini, A; Mancini, P; Ferrari, P; Anselmi, L; Tartarelli, G; Bonazzi, V; Carpi, A; Giardino, R (2004). "Oral low-dose cyclophosphamide in metastatic hormone refractory prostate cancer (MHRPC)". Biomedicine & Pharmacotherapy. 58 (8): 447–50. doi:10.1016/j.biopha.2004.08.006. PMID 15464874.
16. ^ Nelius, Thomas; Klatte, Tobias; Riese, Werner; Haynes, Allan; Filleur, Stephanie (2009). "Clinical outcome of patients with docetaxel-resistant hormone-refractory prostate cancer treated with second-line cyclophosphamide-based metronomic chemotherapy". Medical Oncology. 27 (2): 363–7. doi:10.1007/s12032-009-9218-8. PMID 19365737.
17. ^ Wendel, Hans-Guido; Stanchina, Elisa de; Fridman, Jordan S.; Malina, Abba; Ray, Sagarika; Kogan, Scott; Cordon-Cardo, Carlos; Pelletier, Jerry; Lowe, Scott W. (2004). "Survival signalling by Akt and eIF4E in oncogenesis and cancer therapy". Nature. 428 (6980): 332–7. Bibcode:2004Natur.428..332W. doi:10.1038/nature02369. PMID 15029198.
18. ^ a b Chen, Juhua; Somanath, Payaningal R; Razorenova, Olga; Chen, William S; Hay, Nissim; Bornstein, Paul; Byzova, Tatiana V (2005). "Akt1 regulates pathological angiogenesis, vascular maturation and permeability in vivo". Nature Medicine. 11 (11): 1188–96. doi:10.1038/nm1307. PMC 2277080. PMID 16227992.
19. ^ a b Depas, T; Spitaleri, G; Pruneri, G; Curigliano, G; Noberasco, C; Luini, A; Andreoni, B; Testori, A; Debraud, F (2008). "Dendritic cell sarcoma: An analytic overview of the literature and presentation of original five cases". Critical Reviews in Oncology/Hematology. 65 (1): 1–7. doi:10.1016/j.critrevonc.2007.06.003. PMID 17658269.
20. ^ Pathan, N; Aime-Sempe, C; Kitada, S; Basu, A; Haldar, S; Reed, JC (2001). "Microtubule-Targeting Drugs Induce Bcl-2 Phosphorylation and Association with Pin1". Neoplasia. 3 (6): 550–9. doi:10.1038/sj.neo.7900213. PMC 1506558. PMID 11774038.
21. ^ Mini, E.; Nobili, S; Caciagli, B; Landini, I; Mazzei, T (2006). "Cellular pharmacology of gemcitabine". Annals of Oncology. 17: v7–12. doi:10.1093/annonc/mdj941. PMID 16807468.
22. ^ Leu, K. M.; Ostruszka, LJ; Shewach, D; Zalupski, M; Sondak, V; Biermann, JS; Lee, JS; Couwlier, C; et al. (2004). "Laboratory and Clinical Evidence of Synergistic Cytotoxicity of Sequential Treament With Gemcitabine Followed by Docetaxel in the Treatment of Sarcoma". Journal of Clinical Oncology. 22 (9): 1706–12. doi:10.1200/JCO.2004.08.043. PMID 15117993.
23. ^ Bay, Jacques-Olivier; Ray-Coquard, Isabelle; Fayette, Jérôme; Leyvraz, Serge; Cherix, Stephane; Piperno-Neumann, Sophie; Chevreau, Christine; Isambert, Nicolas; et al. (2006). "Docetaxel and gemcitabine combination in 133 advanced soft-tissue sarcomas: A retrospective analysis". International Journal of Cancer. 119 (3): 706–11. doi:10.1002/ijc.21867. PMID 16496406.
## External links[edit]
Classification
D
* ICD-10: C96.4
* MeSH: D054740
* SNOMED CT: 128816008
External resources
* Orphanet: 86902
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Follicular dendritic cell sarcoma
|
c1260325
| 27,172 |
wikipedia
|
https://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma
| 2021-01-18T18:43:10 |
{"mesh": ["D054740"], "umls": ["C1260325"], "orphanet": ["86902"], "wikidata": ["Q5464657"]}
|
## Clinical Features
In 2 seemingly unrelated Mexican kindreds, Carnevale et al. (1980) described an unusual pattern of limb malformations: triphalangeal thumbs and brachydactyly of the index fingers and third toes. In both kindreds, some persons had ectrodactyly of the feet and less often ectrodactyly in the hands. No similar syndrome was found in the literature.
Silengo et al. (1987) reported a sporadic case and another family in which 4 females in 3 generations were affected with considerable variability in expression.
Zenteno et al. (1996) described a new Mexican family with the triphalangeal thumb-brachyectrodactyly syndrome. The 17-year-old proposita showed the classic malformation pattern: triphalangeal thumb, brachysyndactyly in the hands, and ectrodactyly in the feet. Several members of the family had similar malformations, and others presented minor manifestations of the disorder (brachydactyly and nail dysplasia). This was the fourth reported family with the complex and the third of Mexican origin. There was at least one instance of male-to-male transmission.
Inheritance
Silengo et al. (1987) and Zenteno et al. (1996) reported families with triphalangeal thumb-brachyectrodactyly syndrome in an autosomal dominant inheritance pattern.
Limbs \- Triphalangeal thumbs \- Brachydactyly of index fingers and third toes \- Ectrodactyly of feet \- Ectrodactyly of hands Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY
|
c1860804
| 27,173 |
omim
|
https://www.omim.org/entry/190680
| 2019-09-22T16:32:16 |
{"mesh": ["C536564"], "omim": ["190680"], "orphanet": ["2947"]}
|
Crutch paralysis
SpecialtyNeurology
Crutch paralysis is a form of paralysis which can occur when either the radial nerve or part of the brachial plexus, containing various nerves that innervate sense and motor function to the arm and hand, is under constant pressure, such as by the use of a crutch.[1] This can lead to paralysis of the muscles innervated by the compressed nerve.[2] Generally, crutches that are not adjusted to the correct height can cause the radial nerve to be constantly pushed against the humerus. This can cause any muscle that is innervated by the radial nerve to become partially or fully paralyzed. An example of this is wrist drop, in which the fingers, hand, or wrist is chronically in a flexed position because the radial nerve cannot innervate the extensor muscles due to paralysis. This condition, like other injuries from compressed nerves, normally improves quickly through therapy.[3][4]
## See also[edit]
* Brachial plexus injury
## References[edit]
1. ^ Unnava, Partha (2017-08-24). "Why it's important for crutches not to touch your armpits". Medium. Retrieved 2020-10-14.
2. ^ Raikin, Steven; Froimson, Mark I. (February 1997). "Bilateral Brachial Plexus Compressive Neuropathy (Crutch Palsy)". Journal of Orthopaedic Trauma. 11 (2): 136–138. ISSN 0890-5339.
3. ^ A System of medicine, Volume 1 edited by Thomas Clifford Allbutt
4. ^ Anatomy Physiology - The Unity of Form and Function by Saladin 6th Edition
## External links[edit]
* "Crutch paralysis - definition of crutch paralysis in the Medical dictionary - by the Free Online Medical Dictionary, Thesaurus and Encyclopedia". Medical-dictionary.thefreedictionary.com. Retrieved 2011-12-04.
This article about a medical condition affecting the nervous system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Crutch paralysis
|
c0542141
| 27,174 |
wikipedia
|
https://en.wikipedia.org/wiki/Crutch_paralysis
| 2021-01-18T18:55:16 |
{"mesh": ["D020425"], "umls": ["C0751923"], "wikidata": ["Q5190274"]}
|
From Japan, Wakai et al. (1980) described 2 teenage brothers with pineal teratoma. The parents were not related. Both showed upward gaze palsy and horizontal nystagmus with lateral gaze. One showed abnormal intracranial calcification on plain skull film. One presented at age 13 years with a 7-month history of polydipsia, polyuria and loss of appetite. The second presented at age 17 years with progressive right-sided hemiparesis and a 2-year history of diplopia. The familial occurrence of presacral teratoma is noted elsewhere (176450). As noted by Wakai et al. (1980), medulloblastoma has been reported in sibs on a number of occasions and occurs as part of the basal cell nevus syndrome (109400). Schimke (1983) described a paraventricular germinoma in a 22-year-old male whose paternal uncle had a benign cystic teratoma removed from his mediastinum at the age of 18 years.
Eyes \- Diplopia Radiology \- Abnormal intracranial calcification Neuro \- Pineal teratoma \- Hemiparesis \- Upward gaze palsy \- Nystagmus Inheritance \- Autosomal recessive GU \- Polyuria GI \- Polydipsia \- Loss of appetite ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
TERATOMA, PINEAL
|
c1848902
| 27,175 |
omim
|
https://www.omim.org/entry/273120
| 2019-09-22T16:21:57 |
{"mesh": ["C537401"], "omim": ["273120"]}
|
Corectopia
An eye with an off-centered pupil
SpecialtyOphthalmology
Corectopia is the displacement of the eye's pupil from its normal, central position.[1] It may be associated with high myopia or ectopia lentis, among other conditions.[2] Medical or surgical intervention may be indicated for the treatment of corectopia in some cases.[3]
## See also[edit]
* Eye injury
* Iridodialysis
* Monocular diplopia
* Polycoria
* Axenfeld-Rieger syndrome
## References[edit]
1. ^ Cassin, B.; Solomon, S. (1990). Dictionary of Eye Terminology. Gainesville, Florida: Triad Publishing Company.[page needed]
2. ^ Milea, Dan; Burillon, Carole (1999). "Excimer laser photorefractive keratectomy in myopic eyes with corectopia". Journal of Cataract & Refractive Surgery. 25 (5): 709–11. doi:10.1016/S0886-3350(99)00018-8. PMID 10330650.
3. ^ Atkinson, C Scott; Brodsky, Michael C; Hiles, David A; Simon, John W (1994). "Idiopathic tractional corectopia". Journal of Pediatric Ophthalmology and Strabismus. 31 (6): 387–90. doi:10.3928/0191-3913-19941101-09 (inactive 2021-01-11). PMID 7714703.CS1 maint: DOI inactive as of January 2021 (link)
This article about the eye is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Corectopia
|
c0271135
| 27,176 |
wikipedia
|
https://en.wikipedia.org/wiki/Corectopia
| 2021-01-18T18:30:22 |
{"mesh": ["D011681"], "wikidata": ["Q5170226"]}
|
A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-37 (COXPD37) is caused by homozygous mutation in the MICOS13 gene (616658) on chromosome 19p13.
Description
Combined oxidative phosphorylation deficiency-37 is an autosomal recessive multisystem disorder apparent at birth or in the first months of life. Affected individuals have hypotonia, failure to thrive, and neurodegeneration with loss of developmental milestones, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Mitochondrial respiratory dysfunction is apparent in liver and skeletal muscle tissue. Most patients die in childhood (summary by Zeharia et al., 2016).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Clinical Features
Zeharia et al. (2016) reported 2 sibs, born of consanguineous parents of Muslim origin, with a fatal multisystem disorder beginning in infancy. After normal development in the first months of life, the patients presented at age 3 and 7 months, respectively, with failure to thrive and hypotonia. Subsequently, both patients showed severe and rapid neurologic deterioration, with acquired microcephaly (-2.8 to -4 SD), loss of voluntary movements, head lag, loss of social and eye contact, and optic atrophy with impaired visual function. Brain imaging showed cerebellar and vermis atrophy in both patients. One patient developed spasticity, hyperreflexia, and intractable myoclonic seizures, and the other had hypertrophic cardiomyopathy. Both also had impaired liver function throughout life, with abnormal liver enzymes and coagulation defects. Laboratory studies showed increased serum lactate and alanine as well as increased urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid, and Krebs cycle metabolites. Skeletal and liver biopsies from 1 patient showed normal muscle histology, but the liver had chronic inflammatory infiltration with bile canaliculi proliferation, fibrotic septa, and focal macrovesicular fatty changes. Electron microscopy of the liver tissue revealed abnormally shaped, spherical mitochondria with loss of the normal architecture of the cristae, which was replaced by concentric stacks of inner membrane and abnormal microtubular structures. Mitochondrial respiratory chain activities of complexes I, III, and IV were significantly decreased in the liver compared to controls, but were normal in muscle and fibroblasts. The overall findings indicated a mitochondrial defect. The patients became vegetative and died at 12 months and 5 years of age.
Guarani et al. (2016) reported 2 sibs, born of unrelated parents, who presented soon after birth with severe metabolic abnormalities, including hypothermia, lactic acidosis, hypoglycemia, and signs of liver dysfunction. They were treated symptomatically and recovered from the acute episode, but subsequently showed acquired microcephaly, developmental delay, and neurologic deterioration associated with infection. Laboratory studies showed increased serum lactate and increased urinary 3-methylglutaconic acid. Brain imaging showed cerebellar atrophy with optic atrophy. Heart ultrasound showed mild hypertrophy in 1 patient. Other clinical features included sensorineural deafness (1 patient), poor eye contact, and hypotonia. Both patients died before 3 years of age. Skeletal muscle biopsy from 1 patient showed deficiencies across all respiratory chain complexes with normal values in fibroblasts, although fibroblasts showed a growth defect under glucose deprivation. Muscle biopsy showed enlarged and swollen mitochondria with severe cristae abnormalities.
Godiker et al. (2018) reported a girl, born of consanguineous Iraqi parents, who presented soon after birth with hypoglycemia and lactic acidosis. At age 6 months, she presented with severe hepatic dysfunction and neurologic deterioration during a febrile illness. Features included poor eye contact, poor head control, hypotonia, and global developmental delay. Other investigations showed retinal pigmentation, sensorineural deafness, optic atrophy, cerebellar hypoplasia, hyper- and hypo-echogenic liver nodules, and renal calcifications. She had elevated liver enzymes, coagulation defects, hypoalbuminemia, and urinary excretion of 3-methylglutaconic acid and Krebs cycle intermediates. At age 15 months, she was severely hypotonic and tube-fed; she died of respiratory failure at age 22 months. Muscle biopsy showed severe mitochondrial morphologic abnormalities, including aberrant coiled cristae structures and enlarged overall mitochondria. Mitochondrial respiratory chain activities were severely decreased in muscle and liver tissue, but only mildly in fibroblasts.
Inheritance
The transmission pattern of COXPD37 in the family reported by Zeharia et al. (2016) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 sibs, born of consanguineous parents of Muslim origin, with COXPD37, Zeharia et al. (2016) identified a homozygous frameshift mutation in the MICOS13 gene (616658.0001). The mutation, which was found by a combination of homozygosity mapping and exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient fibroblasts showed absence of the MICOS13 protein as well as reduced levels of other MICOS subunits, indicating a defect in assembly of the complex.
In 2 sibs with COXPD37, Guarani et al. (2016) identified a homozygous splice site mutation in the MICOS13 gene (616658.0002). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Patient fibroblasts showed absence of the MICOS13 protein as well as reduced levels of other MICOS subunits, indicating a defect in assembly of the complex. Patient fibroblasts also showed a growth defect upon glucose withdrawal, consistent with a defect in mitochondrial function.
In a girl, born of consanguineous Iraqi parents, with COXPD37, Godiker et al. (2018) identified a homozygous spice site mutation in the MICOS13 gene (616658.0003). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. There was no detectable full-length MICOS13 in patient cells, consistent with a loss of function.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Microcephaly, acquired Ears \- Sensorineural deafness Eyes \- Poor eye contact \- Loss of eye contact \- Optic atrophy \- Retinal degeneration \- Impaired vision CARDIOVASCULAR Heart \- Hypertrophic cardiomyopathy (in some patients) RESPIRATORY \- Respiratory insufficiency \- Respiratory failure ABDOMEN Liver \- Liver dysfunction \- Mitochondrial abnormalities in liver biopsy Gastrointestinal \- Poor feeding GENITOURINARY Kidneys \- Renal calculi (1 patient) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Neurologic deterioration after the first months of life \- Global developmental delay \- Head lag \- Loss of voluntary movements \- Seizures (in some patients) \- Spasticity (in some patients) \- Hyperreflexia (in some patients) \- Cerebellar atrophy METABOLIC FEATURES \- Lactic acidosis \- Hypoglycemia \- Hypothermia HEMATOLOGY \- Coagulation defects due to liver disease LABORATORY ABNORMALITIES \- Mitochondrial respiratory deficiency of most enzyme complexes in liver and skeletal muscle tissue \- Increased serum lactate \- Increased serum alanine \- Increased urinary 3-methylglutaconic acid \- Increased urinary Krebs cycle intermediates \- Abnormal liver enzymes \- Abnormally shaped, spherical mitochondria with loss of the normal architecture of the cristae MISCELLANEOUS \- Onset at birth or in first months of life \- Progressive disorder \- Deterioration may be exacerbated by illness or fever \- Death in first months or years of life MOLECULAR BASIS \- Caused by mutation in the mitochondrial contact site and cristae organizing system, 13-kd subunit gene (MICOS13, 616658.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37
|
None
| 27,177 |
omim
|
https://www.omim.org/entry/618329
| 2019-09-22T15:42:29 |
{"omim": ["618329"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Elective mutism" – news · newspapers · books · scholar · JSTOR (March 2011) (Learn how and when to remove this template message)
Elective mutism is a now outdated term which was defined as a refusal to speak in almost all social situations (despite normal ability to do so), while selective mutism was considered to be a failure to speak in specific situations and is strongly associated with social anxiety disorder. In contrast to selective mutism, it was thought someone who was electively mute may not speak in any situation, as is usually shown in books and films. Elective mutism was often attributed to defiance or the effect of trauma. Those who are able to speak freely in some situations but not in others are now better described by selective mutism.[1]
## History[edit]
In 1877, a German physician named the disorder aphasia voluntaria to describe children who were able to speak normally but often "refused" to.[2]
In 1980, a study by Torey Hayden identified four "subtypes" of Elective Mutism:[3]
* Symbiotic mutism: the most common of the forms, caused by a vocal and dominating mother and absent father (very rarely the other way around) and characterized by the use of mutism as controlling behavior around other adults.
* Speech phobic mutism: the least common, in which the child showed distinct fear at hearing a recording of his or her voice. This also involved ritualistic behaviors, which may reflect OCD, and was thought to be caused by the child having been told to keep a family secret.
* Reactive mutism: a reaction to trauma and/or abuse, with all children showing symptoms of depression and being notably withdrawn, usually showing no facial expressions. Notably, Hayden admits that some children put in this category had no apparent incident to react to, but they were included because of their symptoms.
* Passive-aggressive mutism: silence is used as a display of hostility, connected to antisocial behavior. Some of the children in her study had reportedly not been mute until age 9-12.
The Diagnostic and Statistical Manual of Mental Disorders (DSM), first published in 1952, first included Elective Mutism in its third edition, published in 1980. Elective mutism was described as "a continuous refusal to speak in almost all social situations" despite normal ability to speak. While "excessive shyness" and other anxiety-related traits were listed as associated features, predisposing factors included "maternal overprotection", mental retardation, and trauma. Elective mutism in the third edition revised (DSM III-R) is described similarly as in the third edition except for specifying that the disorder is not related to social anxiety disorder.
In 1994, the fourth edition of the DSM reflected the name change to selective mutism and redefined the disorder.
## Cultural references[edit]
This section does not cite any sources. Please help improve this section by adding citations to reliable sources. Unsourced material may be challenged and removed. (October 2012) (Learn how and when to remove this template message)
Though elective mutism is no longer recognized by most psychiatrists, it is a popular character element or plot point in stories and movies. Many characters choose to stop speaking, for various reasons. Even more commonly, there are also characters who stop speaking after a traumatic incident. In both these cases, often, and almost always in the second, the character is silent in all situations. This is therefore not selective mutism, and anxiety is very rarely involved. Selective mutism itself is almost nonexistent in pop culture.
The following are a few references to stories including a character who does not speak despite being physically able to.
* In the book Cut by Patricia McCormick, the main character, Callie, is an elective mute.
* In The House of the Spirits by Isabel Allende, Clara Trueba is mute after witnessing her sisters molestation and autopsy. "She could not move until the first lights of dawn appeared. Only then did she slip back into her bed, feeling within her the silence of the entire world. Silence filled her utterly."
* In Hannibal Rising by Thomas Harris, Hannibal Lecter is mute after witnessing his sister killed and eaten.
* In the book Flying Solo, the character Rachel is mute for six months after a classmate dies.
* In The Piano, Ada is an elective mute. She chooses to learn to speak at the end of the film.
* In the 1993 movie, House of Cards, Sally Matthews chooses not to speak after her father dies.
* In the book Halo: Ghosts of Onyx, Lucy-B091 is mute after she is one of only two survivors from her unit of 300.
* In the movie The Prophet Kamila's daughter, Elmitra, is depicted as mute after the death of her father.
* In the 2014 video game Watch Dogs, Aiden Pearce's nephew, Jackson, is electively mute after the death of his sister.
* In the book Fifty Shades of Grey, Christian Grey is depicted as having been an elective mute from age 4, when he witnessed his birth mother's drug overdose and death and was with her body for days before being discovered, until he was 6 years old and he spoke his newly-adopted baby sister's name.
* In John Green's narrative YouTube series Swindon Town Swoodilypoopers, midfielder Maric Maric is selectively mute.
* In A Good Woman Is Hard to Find, Ben Collins stops speaking after witnessing his father being knifed to death.
* In the Season 7 Episode of Little House on the Prairie (TV series) The Silent Cry, one of the two brothers is depicted as an elective mute, much of the story revolving around the issues with adopting him due to not speaking.
## References[edit]
1. ^ Selective Mutism Resource Manual, Second Edition, Routledge, 2016.
2. ^ http://www.brighttots.com/Selective_Mutism.html Bright Tots: Selective Mutism
3. ^ Torey Hayden. Classification of elective mutism
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
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* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Elective mutism
|
c0013775
| 27,178 |
wikipedia
|
https://en.wikipedia.org/wiki/Elective_mutism
| 2021-01-18T19:10:23 |
{"gard": ["6324"], "umls": ["C0013775"], "icd-10": ["F94.0"], "wikidata": ["Q5354941"]}
|
Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Lafora disease
|
c0751783
| 27,179 |
gard
|
https://rarediseases.info.nih.gov/diseases/8214/lafora-disease
| 2021-01-18T17:59:32 |
{"mesh": ["D020192"], "omim": ["254780"], "umls": ["C0751783"], "orphanet": ["501"], "synonyms": ["Lafora body disorder", "Epilepsy progressive myoclonic 2", "EPM2", "Myoclonic epilepsy of Lafora", "MELF"]}
|
A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Isolated generalized anhidrosis with normal sweat glands
|
c1862871
| 27,180 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=468666
| 2021-01-23T17:21:39 |
{"omim": ["106190"]}
|
Pityriasis lichenoides chronica
Other namesChronic guttate parapsoriasis, Chronic pityriasis lichenoides, Dermatitis psoriasiformis nodularis, Parapsoriasis chronica, Parapsoriasis lichenoides chronica
SpecialtyDermatology
Usual onsetIt appears in crops. Erythematous scaly papules mixed with hyper or hypopigmented macules over trunk, limbs are seen. removal of scale reveals shiny brown surface underneath.
Durationcan be chronic. lasting over weeks to months.
CausesNot known. previous bacterial or viral infection can be suspected.
Diagnostic methodClinical and morphological evaluation can be difficult. Skin biopsy from a scaly papule can be diagnostic.
Pityriasis lichenoides chronica (PLC) is an uncommon, idiopathic, acquired dermatosis, characterized by evolving groups of erythematous, scaly papules that may persist for months. [1]:456[2]:737
## Contents
* 1 Symptoms and signs
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 See also
* 6 References
* 7 External links
## Symptoms and signs[edit]
Although other forms of the disease occur at younger ages, some individuals start having long term symptoms at thirty years of age. This disease also affects adolescents and young adults. This also affects the immune system which therefore results in rashes. The symptoms rarely affect the face or scalp, but occurs at other sites of the body. The duration may last for months or even several years. For instance, new crops of lesions appear every few weeks.[3]
## Causes[edit]
Pityriasis lichenoides chronica is probably caused by a hypersensitivity reaction to infectious agents such as the Epstein–Barr virus. Other infectious agents include the adenovirus and Parvovirus B19.[4]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (June 2017)
## Treatment[edit]
There is no standard treatment for PLC. Treatments may include ultraviolet phototherapy, topical steroids, sun exposure, oral antibiotics, corticosteroid creams and ointments to treat rash and itching.[3][5]One study identified the enzyme bromelain as an effective therapeutic option for PLC.[6]
## See also[edit]
* Cutaneous T-cell lymphoma
* Parapsoriasis
* Pityriasis lichenoides
* List of cutaneous conditions
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
2. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
3. ^ a b https://web.archive.org/web/20101115054743/http://www.articleclick.com/Article/Pityriasis-Lichenoides-Chronica-Treatment-Tips/955864. Archived from the original on 2010-11-15. Missing or empty `|title=` (help)
4. ^ Jeffrey S Henning DO (2004). "Pityriasis lichenoides chronica". Dermatology.cdlib.org. 10 (3).
5. ^ Henning, Jeffrey S. (2004). "Pityriasis lichenoides chronica [eScholarship]". Dermatology Online Journal. 10 (3).
6. ^ "Role of bromelain in the treatment of patients with pityriasis lichenoides chronica".
## External links[edit]
* DermNet scaly/pityriasis-lichenoides
Classification
D
* ICD-10: L41.1
* ICD-9-CM: 696.2
External resources
* eMedicine: derm/334
* v
* t
* e
Papulosquamous disorders
Psoriasis
Pustular
* Generalized pustular psoriasis (Impetigo herpetiformis)
* Acropustulosis/Pustulosis palmaris et plantaris (Pustular bacterid)
* Annular pustular psoriasis
* Localized pustular psoriasis
Other
* Guttate psoriasis
* Psoriatic arthritis
* Psoriatic erythroderma
* Drug-induced psoriasis
* Inverse psoriasis
* Napkin psoriasis
* Seborrheic-like psoriasis
Parapsoriasis
* Pityriasis lichenoides (Pityriasis lichenoides et varioliformis acuta, Pityriasis lichenoides chronica)
* Lymphomatoid papulosis
* Small plaque parapsoriasis (Digitate dermatosis, Xanthoerythrodermia perstans)
* Large plaque parapsoriasis (Retiform parapsoriasis)
Other pityriasis
* Pityriasis rosea
* Pityriasis rubra pilaris
* Pityriasis rotunda
* Pityriasis amiantacea
Other lichenoid
Lichen planus
* configuration
* Annular
* Linear
* morphology
* Hypertrophic
* Atrophic
* Bullous
* Ulcerative
* Actinic
* Pigmented
* site
* Mucosal
* Nails
* Peno-ginival
* Vulvovaginal
* overlap synromes
* with lichen sclerosus
* with lupus erythematosis
* other:
* Hepatitis-associated lichen planus
* Lichen planus pemphigoides
Other
* Lichen nitidus
* Lichen striatus
* Lichen ruber moniliformis
* Gianotti–Crosti syndrome
* Erythema dyschromicum perstans
* Idiopathic eruptive macular pigmentation
* Keratosis lichenoides chronica
* Kraurosis vulvae
* Lichen sclerosus
* Lichenoid dermatitis
* Lichenoid reaction of graft-versus-host disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Pityriasis lichenoides chronica
|
c0162851
| 27,181 |
wikipedia
|
https://en.wikipedia.org/wiki/Pityriasis_lichenoides_chronica
| 2021-01-18T18:44:41 |
{"gard": ["7400"], "mesh": ["D017514"], "icd-9": ["696.2"], "icd-10": ["L41.1"], "wikidata": ["Q2097355"]}
|
A number sign (#) is used with this entry because of evidence that familial acne inversa-3 (ACNINV3) is caused by heterozygous mutation in the PSEN1 gene (104311) on chromosome 14q24. One such family has been reported.
Description
Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690.
Molecular Genetics
In a 3-generation Chinese family segregating autosomal dominant acne inversa, Wang et al. (2010) identified heterozygosity for a frameshift mutation in the PSEN1 gene in affected individuals (104311.0038). Wang et al. (2010) noted that all Alzheimer disease/dementia-causing PSEN mutations reported to that time had been missense mutations or in-frame deletions or insertions. No affected individual 50 years old or older had symptoms of Alzheimer disease or dementias.
INHERITANCE \- Autosomal dominant SKIN, NAILS, & HAIR Skin \- Acne inversa (predominantly affecting armpit, groin, inner thigh, perianal and perineal, submammary, and buttock regions) MISCELLANEOUS \- Marked variability in severity of the skin lesions \- Males more frequently have severe lesions \- Skin lesions on back, face, nape of neck, and waist tend to be mild MOLECULAR BASIS \- Caused by mutation in the presenilin 1 gene (PSEN1, 104311.0038 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
ACNE INVERSA, FAMILIAL, 3
|
c3151038
| 27,182 |
omim
|
https://www.omim.org/entry/613737
| 2019-09-22T15:57:43 |
{"omim": ["613737"]}
|
Tension headache
Other namesTension-type headache (TTH), stress headache
A woman experiencing a tension headache
SpecialtyNeurology
Differential diagnosisMigraine
Tension headache, also known as stress headache, or tension-type headache (TTH), is the most common type of primary headache. The pain can radiate from the lower back of the head, the neck, eyes or other muscle groups in the body typically affecting both sides of the head. Tension-type headaches account for nearly 90% of all headaches.
Pain medication, such as aspirin and ibuprofen, are effective for the treatment of tension headache.[1][2] Tricyclic antidepressants appear to be useful for prevention.[3] Evidence is poor for SSRIs, propranolol and muscle relaxants.[4][5]
As of 2016, tension headaches affect about 1.89 billion people[6] and are more common in women than men (23% to 18% respectively).[7]
## Contents
* 1 Signs and symptoms
* 2 Risk factors
* 3 Mechanism
* 3.1 Neurotransmitters
* 3.2 Synapses
* 3.3 Stress
* 4 Diagnosis
* 4.1 Classification
* 4.2 Differential diagnosis
* 5 Prevention
* 5.1 Lifestyle
* 5.2 Medications
* 6 Treatment
* 6.1 Exercise
* 6.2 Medications
* 6.2.1 Episodic
* 6.2.2 Chronic
* 6.3 Manual therapy
* 7 Epidemiology
* 8 References
* 9 External links
## Signs and symptoms[edit]
According to the third edition of the International Classification of Headache Disorders,[8] the attacks must meet the following criteria:
* A duration of between 30 minutes and 7 days.
* At least two of the following four characteristics:
* bilateral location
* pressing or tightening (non-pulsating) quality
* mild or moderate intensity
* not aggravated by routine physical activity such as walking or climbing stairs
* Both of the following:
* no nausea or vomiting
* no more than one of photophobia (sensitivity to bright light) or phonophobia (sensitivity to loud sounds)
Tension-type headaches may be accompanied by tenderness of the scalp on manual pressure during an attack.
## Risk factors[edit]
Various precipitating factors may cause tension-type headaches in susceptible individuals:[9]
* Anxiety
* Stress
* Sleep problems
* Young age
* Poor health
## Mechanism[edit]
Although the musculature of the head and neck and psychological factors such as stress may play a role in the overall pathophysiology of TTH, neither is currently believed to be the sole cause of the development of TTH.[10] The pathologic basis of TTH is most likely derived from a combination of personal factors, environmental factors, and alteration of both peripheral and central pain pathways.[11] Peripheral pain pathways receive pain signals from pericranial (around the head) myofascial tissue (protective tissue of muscles) and alteration of this pathway likely underlies episodic tension-type headache (ETTH).[11] In addition to these myofascial tissue pain signals, pericranial muscle tenderness, inflammation, and muscle ischemia have been postulated in headache literature to be causal factors in the peripheral pathophysiology of TTH.[9] However, multiple studies have failed to illustrate evidence for a pathologic role of either ischemia or inflammation within the muscles.[9] Pericranial tenderness is also not likely a peripheral causal factor for TTH, but may instead act to trigger a chronic pain cycle in which the peripheral pain response is transformed over time into a centralized pain response.[9] It is then these prolonged alterations in the peripheral pain pathways that lead to increased excitability of the central nervous system pain pathways, resulting in the transition of episodic tension-type headache into chronic tension type headache (CTTH).[11] Specifically, the hyperexcitability occurs in central nociceptive neurons (the trigeminal spinal nucleus, thalamus, and cerebral cortex) resulting in central sensitization, which manifests clinically as allodynia and hyperalgesia of CTTH.[9][12] Additionally, CTTH patients exhibit decreased thermal and pain thresholds which further bolsters support for central sensitization occurring in CTTH.[9]
The alterations in physiology that lead to overall process of central sensitization involve changes at the level of neural tracts, neurotransmitters and their receptors, the neural synapse, and the post-synaptic membrane. Evidence suggests dysfunction in supraspinal descending inhibitory pain pathways may contribute to the pathogenesis of central sensitization in CTTH.[9]
### Neurotransmitters[edit]
Specific neuronal receptors and neurotransmitters thought to be most involved include NMDA and AMPA receptors, glutamate, serotonin (5-HT), β-endorphin, and nitric oxide (NO).[9] Of the neurotransmitters, NO plays a major role in central pain pathways and likely contributes to the process of central sensitization.[9] Briefly, the enzyme nitric oxide synthase (NOS) forms NO which ultimately results in vasodilatation and activation of central nervous system pain pathways.[9] Serotonin may also be of significant importance and involved in malfunctioning pain filter located in the brain stem. The view is that the brain misinterprets information—for example from the temporal muscle or other muscles—and interprets this signal as pain. Evidence for this theory comes from the fact that chronic tension-type headaches may be successfully treated with certain antidepressants such as nortriptyline. However, the analgesic effect of nortriptyline, as well as amitriptyline in chronic tension-type headache, is not solely due to serotonin reuptake inhibition, and likely other mechanisms are involved.[13][9]
### Synapses[edit]
Regarding synaptic level changes, homosynaptic facilitation and heterosynaptic facilitation are both likely to be involved in central sensitization.[9] Homosynaptic facilitation occurs when synapses normally involved in pain pathways undergo changes involving receptors on the post-synaptic membrane as well as the molecular pathways activated upon synaptic transmission. Lower pain thresholds of CTTH result from this homosynaptic facilitation. In contrast, heterosynaptic facilitation occurs when synapses not normally involved in pain pathways become involved. Once this occurs innocuous signals are interpreted as painful signals. Allodynia and hyperalgesia of CTTH represent this heterosynaptic facilitation clinically.[9]
### Stress[edit]
In the literature, stress is mentioned as a factor and may be implicated via the adrenal axis. This ultimately results in downstream activation of NMDA receptor activation, NFκB activation, and upregulation of iNOS with subsequent production of NO leading to pain as described above.[9]
## Diagnosis[edit]
With TTH the physical exam is expected to be normal with perhaps the exception of either pericranial tenderness upon palpation of the cranial muscles, or presence of either photophobia or phonophobia.[14]
### Classification[edit]
Classification system for tension-type headache.
The International Headache Society's most current classification system for headache disorders is the International Classification of Headache Disorders 3rd edition (ICHD-3) as of 2018. This classification system separates tension-type headache (TTH) into two main groups: episodic (ETTH) and chronic (CTTH). CTTH is defined as fifteen days or more per month with headache for greater than three months, or one-hundred eighty days or more, with headache per year.[15] ETTH is less than fifteen days per month with headache or less than one-hundred eighty days with headache per year.[16][17] However, ETTH is further sub-divided into frequent and infrequent TTH.[18] Frequent TTH is defined as ten or more episodes of headache over the course of one to fourteen days per month for greater than three months, or at least twelve days per year, but less than one-hundred eighty days per year.[17] Infrequent TTH is defined as ten or more episodes of headache for less than one day per month or less than twelve days per year.[16] Furthermore, all sub-classes of TTH can be classified as having presence or absence of pericranial tenderness, which is tenderness of the muscles of the head.[18] Probable TTH is utilized for patients with some characteristics, but not all characteristics of a given sub-type of TTH.[19]
### Differential diagnosis[edit]
Extensive testing is not needed as TTH is diagnosed by history and physical. However, if symptoms indicative of a more serious diagnosis are present, a contrast enhanced MRI may be utilized. Furthermore, giant cell arteritis should be considered in those 50 years of age and beyond. Screening for giant cell arteritis involves the blood tests of erythrocyte sedimentation rate (ESR) and c-reactive protein.[14][10]
* Migraine
* Oromandibular dysfunction
* Sinus disease
* Eye disease
* Cervical spine disease
* Infection in immunocompromised
* Intracranial mass
* Idiopathic intracranial hypertension
* Medication overuse headache
* Secondary headache (headache due to other disorder)
* Giant cell arteritis ( ≥50 years of age)
* Dermatochalasis
## Prevention[edit]
### Lifestyle[edit]
Drinking water and avoiding dehydration helps in preventing tension headache.[20] Using stress management and relaxing often makes headaches less likely.[20] Drinking alcohol can make headaches more likely or severe.[20] Good posture might prevent headaches if there is neck pain.[20] People who have jaw clenching might develop headaches, and getting treatment from a dentist might prevent those headaches.[20] Biofeedback techniques may also help.[21]
### Medications[edit]
People who have 15 or more headaches in a month may be treated with certain types of daily antidepressants which act to prevent continued tension headaches from occurring.[20] In those who are predisposed to tension type headaches the first-line preventative treatment is amitriptyline, whereas mirtazapine and venlafaxine are second-line treatment options.[22] Tricyclic antidepressants appear to be useful for prevention.[3] Tricyclic antidepressants have been found to be more effective than SSRIs but have greater side effects.[3] Evidence is poor for the use of SSRIs, propranolol, and muscle relaxants for prevention of tension headaches.[4][5]
## Treatment[edit]
Treatment for a current tension headache is to drink water and confirm that there is no dehydration.[20] If symptoms do not resolve within an hour for a person who has had water, then stress reduction might resolve the issue.[20]
### Exercise[edit]
Evidence supports simple neck and shoulder exercises in managing ETTH and CTTH for headaches associated with neck pain. Exercises include stretching, strengthening and range of motion exercises. CTTH can also benefit from combined therapy from stress therapy, exercises and postural correction.[23]
### Medications[edit]
#### Episodic[edit]
Over-the-counter drugs, like paracetamol, aspirin, or NSAIDs (ibuprofen, naproxen, ketoprofen), can be effective but tend to only be helpful as a treatment for a few times in a week at most.[1][20][24][11] For those with gastrointestinal problems (ulcers and bleeding), acetaminophen is the better choice over aspirin, though both provide roughly equivalent pain relief.[11] It is important to note that large daily doses of paracetamol should be avoided as it may cause liver damage especially in those that consume 3 or more drinks/day and those with pre-existing liver disease.[11] Ibuprofen, one of the NSAIDs listed above, is a common choice for pain relief but may also lead to gastrointestinal discomfort.[11]
Analgesic/sedative combinations are widely used (e.g., analgesic/antihistamine combinations, analgesic/barbiturate combinations such as Fiorinal).[2][22] In addition analgesic/caffeine combinations are popular such as the aspirin-caffeine combination or the aspirin, acetaminophen and caffeine combinations.[11] Frequent use (daily or skipping just one day in between use for 7–10 days) of any of the above analgesics may, however, lead to medication overuse headache.[2][22][11]
Muscle relaxants are typically used for and are helpful with acute post-traumatic TTH rather than ETTH.[11] Opioid medications are not utilized to treat ETTH.[11] Botulinum toxin does not appear to be helpful.[25]
#### Chronic[edit]
Classes of medications involved in treatment of CTTH include tricyclic antidepressants (TCAs), SSRIs, benzodiazepine (Clonazepam in small evening dose), and muscle relaxants. The most commonly utilized TCA is amitriptyline due to the postulated role in decreasing central sensitization and analgesic relief. Another popular TCA used is Doxepine. SSRIs may also be utilized for management of CTTH. For patients with concurrent muscle spasm and CTTH, the muscle relaxant Tizanidine can be a helpful option.[11]
These medications however, are not effective if concurrent overuse of over the counter medications or other analgesics is occurring.[11] Stopping overuse must occur prior to proceeding with other forms of treatment.[11]
### Manual therapy[edit]
Current evidence for acupuncture is slight. A 2016 systematic review suggests better evidence among those with frequent tension headaches, but concludes that further trials comparing acupuncture with other treatment options are needed.[26]
People with tension-type headache often use spinal manipulation, soft tissue therapy, and myofascial trigger point treatment. Studies of effectiveness are mixed. A 2006 systematic review found no rigorous evidence supporting manual therapies for tension headache.[27] A 2005 structured review found only weak evidence for the effectiveness of chiropractic manipulation for tension headache, and that it was probably more effective for tension headache than for migraine.[28] A 2004 Cochrane review found that spinal manipulation may be effective for migraine and tension headache, and that spinal manipulation and neck exercises may be effective for cervicogenic headache.[29] Two other systematic reviews published between 2000 and May 2005 did not find conclusive evidence in favor of spinal manipulation.[30] A 2012 systematic review of manual therapy found that hands-on work may reduce both the frequency and the intensity of chronic tension-type headaches.[31] More current literature also appears to be mixed however, CTTH patients may benefit from massage and physiotherapy as suggested by a systemic review examining these modalities via RCTs specifically for this patient population[32] Despite being helpful, the review also makes a point to note that there is no difference in effectiveness long term (6 months) between those CTTH patients utilizing TCAs and physiotherapy.[32] Another systemic review comparing manual therapy to pharmacologic therapy also supports little long term difference in outcome regarding TTH frequency, duration, and intensity.[33]
## Epidemiology[edit]
As of 2016 tension headaches affect about 1.89 billion people [34] and are more common in women than men (23% to 18% respectively).[7] Despite its benign character, tension-type headache, especially in its chronic form, can impart significant disability on patients as well as burden on society at large.[6]
## References[edit]
1. ^ a b Derry S, Wiffen PJ, Moore RA, Bendtsen L (July 2015). "Ibuprofen for acute treatment of episodic tension-type headache in adults". The Cochrane Database of Systematic Reviews. 7 (7): CD011474. doi:10.1002/14651858.CD011474.pub2. PMC 6457940. PMID 26230487.
2. ^ a b c Loder E, Rizzoli P (January 2008). "Tension-type headache". BMJ. 336 (7635): 88–92. doi:10.1136/bmj.39412.705868.AD. PMC 2190284. PMID 18187725.
3. ^ a b c Jackson JL, Shimeall W, Sessums L, Dezee KJ, Becher D, Diemer M, Berbano E, O'Malley PG (October 2010). "Tricyclic antidepressants and headaches: systematic review and meta-analysis". BMJ. 341: c5222. doi:10.1136/bmj.c5222. PMC 2958257. PMID 20961988.
4. ^ a b Verhagen AP, Damen L, Berger MY, Passchier J, Koes BW (April 2010). "Lack of benefit for prophylactic drugs of tension-type headache in adults: a systematic review". Family Practice. 27 (2): 151–65. doi:10.1093/fampra/cmp089. PMID 20028727.
5. ^ a b Banzi R, Cusi C, Randazzo C, Sterzi R, Tedesco D, Moja L (May 2015). "Selective serotonin reuptake inhibitors (SSRIs) and serotonin-norepinephrine reuptake inhibitors (SNRIs) for the prevention of tension-type headache in adults". The Cochrane Database of Systematic Reviews. 5 (5): CD011681. doi:10.1002/14651858.CD011681. PMC 6864942. PMID 25931277.
6. ^ a b Lenaerts ME (December 2006). "Burden of tension-type headache". Current Pain and Headache Reports. 10 (6): 459–62. doi:10.1007/s11916-006-0078-z. PMID 17087872.
7. ^ a b Vos T, Flaxman AD, Naghavi M, Lozano R, Michaud C, Ezzati M, et al. (December 2012). "Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010". Lancet. 380 (9859): 2163–96. doi:10.1016/S0140-6736(12)61729-2. PMC 6350784. PMID 23245607.
8. ^ Headache Classification Committee of the International Headache Society (IHS): The International Classification of Headache Disorders,3rd edition. Cephalalgia 33(9) 629–808
9. ^ a b c d e f g h i j k l m n Chen, Yaniv (2009). "Advances in the pathophysiology of tension-type headache: From stress to central sensitization". Current Pain and Headache Reports. 13 (6): 484–494. doi:10.1007/s11916-009-0078-x. ISSN 1531-3433. PMID 19889292.
10. ^ a b Walls, Ron; Hockberger, Robert; Gausche-Hill, Marianne (2017-03-09). Rosen's emergency medicine : concepts and clinical practice. Walls, Ron M.; Hockberger, Robert S.; Gausche-Hill, Marianne (Ninth ed.). Philadelphia, PA. p. 1269. ISBN 9780323390163. OCLC 989157341.
11. ^ a b c d e f g h i j k l m n Jay GW, Barkin RL (December 2017). "Primary Headache Disorders- Part 2: Tension-type headache and medication overuse headache". Disease-A-Month. 63 (12): 342–367. doi:10.1016/j.disamonth.2017.05.001. PMID 28886861.
12. ^ Ashina S, Bendtsen L, Ashina M (December 2005). "Pathophysiology of tension-type headache". Current Pain and Headache Reports. 9 (6): 415–22. doi:10.1007/s11916-005-0021-8. PMID 16282042.
13. ^ Ashina M, Lassen LH, Bendtsen L, Jensen R, Olesen J (January 1999). "Effect of inhibition of nitric oxide synthase on chronic tension-type headache: a randomised crossover trial". Lancet. 353 (9149): 287–9. doi:10.1016/S0140-6736(98)01079-4. PMID 9929022.
14. ^ a b Smith, Jonathan (2019). Ferri's Clinical Advisor. Philadelphia: Elsevier. p. 1348. ISBN 978-0-323-53042-2.
15. ^ Ihsclassification. "2.3 Chronic tension-type headache". ICHD-3 The International Classification of Headache Disorders 3rd edition. Retrieved 2019-01-12.
16. ^ a b Ihsclassification. "2.1 Infrequent episodic tension-type headache". ICHD-3 The International Classification of Headache Disorders 3rd edition. Retrieved 2019-01-12.
17. ^ a b Ihsclassification. "2.2 Frequent episodic tension-type headache". ICHD-3 The International Classification of Headache Disorders 3rd edition. Retrieved 2019-01-12.
18. ^ a b Ihsclassification. "2. Tension-type headache (TTH)". ICHD-3 The International Classification of Headache Disorders 3rd edition. Retrieved 2019-01-12.
19. ^ Ihsclassification. "2.4 Probable tension-type headache". ICHD-3 The International Classification of Headache Disorders 3rd edition. Retrieved 2019-01-12.
20. ^ a b c d e f g h i Consumer Reports (28 April 2016). "Tension Headache Treatment and Prevention". Consumer Reports. Retrieved 25 May 2016.
21. ^ Nestoriuc Y, Rief W, Martin A (June 2008). "Meta-analysis of biofeedback for tension-type headache: efficacy, specificity, and treatment moderators". Journal of Consulting and Clinical Psychology. 76 (3): 379–96. doi:10.1037/0022-006X.76.3.379. PMID 18540732.
22. ^ a b c Bendtsen L, Jensen R (May 2011). "Treating tension-type headache -- an expert opinion". Expert Opinion on Pharmacotherapy. 12 (7): 1099–109. doi:10.1517/14656566.2011.548806. PMID 21247362.
23. ^ Varatharajan, Sharanya; Ferguson, Brad; Chrobak, Karen; Shergill, Yaadwinder; Côté, Pierre; Wong, Jessica J.; Yu, Hainan; Shearer, Heather M.; Southerst, Danielle; Sutton, Deborah; Randhawa, Kristi (July 2016). "Are non-invasive interventions effective for the management of headaches associated with neck pain? An update of the Bone and Joint Decade Task Force on Neck Pain and Its Associated Disorders by the Ontario Protocol for Traffic Injury Management (OPTIMa) Collaboration". European Spine Journal. 25 (7): 1971–1999. doi:10.1007/s00586-016-4376-9. ISSN 0940-6719. PMID 26851953.
24. ^ Derry S, Wiffen PJ, Moore RA (January 2017). "Aspirin for acute treatment of episodic tension-type headache in adults". The Cochrane Database of Systematic Reviews. 1: CD011888. doi:10.1002/14651858.CD011888.pub2. PMC 6464783. PMID 28084009.
25. ^ Simpson DM, Hallett M, Ashman EJ, Comella CL, Green MW, Gronseth GS, Armstrong MJ, Gloss D, Potrebic S, Jankovic J, Karp BP, Naumann M, So YT, Yablon SA (May 2016). "Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache: Report of the Guideline Development Subcommittee of the American Academy of Neurology". Neurology. 86 (19): 1818–26. doi:10.1212/WNL.0000000000002560. PMC 4862245. PMID 27164716.
26. ^ Linde K, Allais G, Brinkhaus B, Fei Y, Mehring M, Shin BC, Vickers A, White AR (April 2016). "Acupuncture for the prevention of tension-type headache". The Cochrane Database of Systematic Reviews. 4 (4): CD007587. doi:10.1002/14651858.CD007587.pub2. PMC 4955729. PMID 27092807.
27. ^ Fernández-de-Las-Peñas C, Alonso-Blanco C, Cuadrado ML, Miangolarra JC, Barriga FJ, Pareja JA (2006). "Are manual therapies effective in reducing pain from tension-type headache?: a systematic review". The Clinical Journal of Pain. 22 (3): 278–85. doi:10.1097/01.ajp.0000173017.64741.86. PMID 16514329.
28. ^ Biondi DM (June 2005). "Physical treatments for headache: a structured review". Headache. 45 (6): 738–46. doi:10.1111/j.1526-4610.2005.05141.x. PMID 15953306.
29. ^ Bronfort G, et al. (2004). Brønfort G (ed.). "Non-invasive physical treatments for chronic/recurrent headache". The Cochrane Database of Systematic Reviews (3): CD001878. doi:10.1002/14651858.CD001878.pub2. PMID 15266458. (Retracted, see doi:10.1002/14651858.cd001878.pub3. If this is an intentional citation to a retracted paper, please replace `{{Retracted}}` with `{{Retracted|intentional=yes}}`.)
30. ^ Ernst E, Canter PH (April 2006). "A systematic review of systematic reviews of spinal manipulation". Journal of the Royal Society of Medicine. 99 (4): 192–6. doi:10.1258/jrsm.99.4.192. PMC 1420782. PMID 16574972.
31. ^ Chaibi A, Russell MB (July 2012). "Manual therapies for cervicogenic headache: a systematic review". The Journal of Headache and Pain. 13 (5): 351–9. doi:10.1007/s10194-012-0436-7. PMC 3381059. PMID 22460941.
32. ^ a b Chaibi A, Russell MB (October 2014). "Manual therapies for primary chronic headaches: a systematic review of randomized controlled trials". The Journal of Headache and Pain. 15: 67. doi:10.1186/1129-2377-15-67. PMC 4194455. PMID 25278005.
33. ^ Mesa-Jiménez JA, Lozano-López C, Angulo-Díaz-Parreño S, Rodríguez-Fernández ÁL, De-la-Hoz-Aizpurua JL, Fernández-de-Las-Peñas C (December 2015). "Multimodal manual therapy vs. pharmacological care for management of tension type headache: A meta-analysis of randomized trials". Cephalalgia. 35 (14): 1323–32. doi:10.1177/0333102415576226. PMID 25748428.
34. ^ Stovner, Lars Jacob; Nichols, Emma; Steiner, Timothy J.; Abd-Allah, Foad; Abdelalim, Ahmed; Al-Raddadi, Rajaa M.; Ansha, Mustafa Geleto; Barac, Aleksandra; Bensenor, Isabela M.; Doan, Linh Phuong; Edessa, Dumessa; Endres, Matthias; Foreman, Kyle J.; Gankpe, Fortune Gbetoho; Gopalkrishna, Gururaj; Goulart, Alessandra C.; Gupta, Rahul; Hankey, Graeme J.; Hay, Simon I.; Hegazy, Mohamed I.; Hilawe, Esayas Haregot; Kasaeian, Amir; Kassa, Dessalegn H.; Khalil, Ibrahim; Khang, Young-Ho; Khubchandan, Jagdish; Kim, Yun Jin; Kokubo, Yoshihiro; Mohammed, Mohammed A.; et al. (November 2018). "Global, regional, and national burden of migraine and tension-type headache, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016". The Lancet. Neurology. 17 (11): 954–976. doi:10.1016/S1474-4422(18)30322-3. PMC 6191530. PMID 30353868.
## External links[edit]
Classification
D
* ICD-10: G44.2
* ICD-9-CM: 307.81, 339.1
* MeSH: D018781
* DiseasesDB: 12554
External resources
* MedlinePlus: 000797
* eMedicine: article/1142908
* American Council for Headache Education
* National Headache Foundation
* World Headache Alliance
* v
* t
* e
Diseases of the nervous system, primarily CNS
Inflammation
Brain
* Encephalitis
* Viral encephalitis
* Herpesviral encephalitis
* Limbic encephalitis
* Encephalitis lethargica
* Cavernous sinus thrombosis
* Brain abscess
* Amoebic
Brain and spinal cord
* Encephalomyelitis
* Acute disseminated
* Meningitis
* Meningoencephalitis
Brain/
encephalopathy
Degenerative
Extrapyramidal and
movement disorders
* Basal ganglia disease
* Parkinsonism
* PD
* Postencephalitic
* NMS
* PKAN
* Tauopathy
* PSP
* Striatonigral degeneration
* Hemiballismus
* HD
* OA
* Dyskinesia
* Dystonia
* Status dystonicus
* Spasmodic torticollis
* Meige's
* Blepharospasm
* Athetosis
* Chorea
* Choreoathetosis
* Myoclonus
* Myoclonic epilepsy
* Akathisia
* Tremor
* Essential tremor
* Intention tremor
* Restless legs
* Stiff-person
Dementia
* Tauopathy
* Alzheimer's
* Early-onset
* Primary progressive aphasia
* Frontotemporal dementia/Frontotemporal lobar degeneration
* Pick's
* Dementia with Lewy bodies
* Posterior cortical atrophy
* Vascular dementia
Mitochondrial disease
* Leigh syndrome
Demyelinating
* Autoimmune
* Inflammatory
* Multiple sclerosis
* For more detailed coverage, see Template:Demyelinating diseases of CNS
Episodic/
paroxysmal
Seizures and epilepsy
* Focal
* Generalised
* Status epilepticus
* For more detailed coverage, see Template:Epilepsy
Headache
* Migraine
* Cluster
* Tension
* For more detailed coverage, see Template:Headache
Cerebrovascular
* TIA
* Stroke
* For more detailed coverage, see Template:Cerebrovascular diseases
Other
* Sleep disorders
* For more detailed coverage, see Template:Sleep
CSF
* Intracranial hypertension
* Hydrocephalus
* Normal pressure hydrocephalus
* Choroid plexus papilloma
* Idiopathic intracranial hypertension
* Cerebral edema
* Intracranial hypotension
Other
* Brain herniation
* Reye syndrome
* Hepatic encephalopathy
* Toxic encephalopathy
* Hashimoto's encephalopathy
Both/either
Degenerative
SA
* Friedreich's ataxia
* Ataxia–telangiectasia
MND
* UMN only:
* Primary lateral sclerosis
* Pseudobulbar palsy
* Hereditary spastic paraplegia
* LMN only:
* Distal hereditary motor neuronopathies
* Spinal muscular atrophies
* SMA
* SMAX1
* SMAX2
* DSMA1
* Congenital DSMA
* Spinal muscular atrophy with lower extremity predominance (SMALED)
* SMALED1
* SMALED2A
* SMALED2B
* SMA-PCH
* SMA-PME
* Progressive muscular atrophy
* Progressive bulbar palsy
* Fazio–Londe
* Infantile progressive bulbar palsy
* both:
* Amyotrophic lateral sclerosis
* v
* t
* e
Headache
Primary
ICHD 1
* Migraine
* Familial hemiplegic
* Retinal migraine
ICHD 2
* Tension
* Mixed tension migraine
ICHD 3
* Cluster
* Chronic paroxysmal hemicrania
* SUNCT
ICHD 4
* Hemicrania continua
* Thunderclap headache
* Sexual headache
* New daily persistent headache
* Hypnic headache
Secondary
ICHD 5
* Migralepsy
ICHD 7
* Ictal headache
* Post-dural-puncture headache
ICHD 8
* Hangover
* Medication overuse headache
ICHD 13
* Trigeminal neuralgia
* Occipital neuralgia
* External compression headache
* Cold-stimulus headache
* Optic neuritis
* Postherpetic neuralgia
* Tolosa–Hunt syndrome
Other
* Vascular
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Tension headache
|
c0033893
| 27,183 |
wikipedia
|
https://en.wikipedia.org/wiki/Tension_headache
| 2021-01-18T19:00:43 |
{"mesh": ["D018781"], "icd-9": ["307.81", "339.1"], "icd-10": ["G44.2"], "wikidata": ["Q1338684"]}
|
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.
There are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS.
The first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals.
Approximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD.
A rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.
## Frequency
About 5,000 people in the United States are diagnosed with ALS each year. Worldwide, this disorder occurs in 2 to 5 per 100,000 individuals. Only a small percentage of cases have a known genetic cause.
Among the Chamorro people of Guam and people from the Kii Peninsula of Japan, ALS-PDC can be 100 times more frequent than ALS is in other populations. ALS-PDC has not been reported outside of these populations.
## Causes
Mutations in several genes can cause familial ALS and contribute to the development of sporadic ALS. Mutations in the C9orf72 gene account for 30 to 40 percent of familial ALS in the United States and Europe. Worldwide, SOD1 gene mutations cause 15 to 20 percent of familial ALS, and TARDBP and FUS gene mutations each account for about 5 percent of cases. The other genes that have been associated with familial ALS each account for a small proportion of cases. It is estimated that 60 percent of individuals with familial ALS have an identified genetic mutation. The cause of the condition in the remaining individuals is unknown.
The C9orf72, SOD1, TARDBP, and FUS genes are key to the normal functioning of motor neurons and other cells. It is unclear how mutations in these genes contribute to the death of motor neurons, but it is thought that motor neurons are more sensitive to disruptions in function because of their large size. Most motor neurons affected by ALS have a buildup of protein clumps (aggregates); however, it is unknown whether these aggregates are involved in causing ALS or are a byproduct of the dying cell.
In some cases of familial ALS due to mutations in other genes, studies have identified the mechanisms that lead to ALS. Some gene mutations lead to a disruption in the development of axons, the specialized extensions of nerve cells (such as motor neurons) that transmit nerve impulses. The altered axons may impair transmission of impulses from nerves to muscles, leading to muscle weakness and atrophy. Other mutations lead to a slowing in the transport of materials needed for the proper function of axons in motor neurons, eventually causing the motor neurons to die. Additional gene mutations prevent the breakdown of toxic substances, leading to their buildup in nerve cells. The accumulation of toxic substances can damage motor neurons and eventually cause cell death. In some cases of ALS, it is unknown how the gene mutation causes the condition.
The cause of sporadic ALS is largely unknown but probably involves a combination of genetic and environmental factors. Variations in many genes, including the previously mentioned genes involved in transmission of nerve impulses and transportation of materials within neurons, increase the risk of developing ALS. Gene mutations that are risk factors for ALS may add, delete, or change DNA building blocks (nucleotides), resulting in the production of a protein with an altered or reduced function. While genetic variations have been associated with sporadic ALS, not all genetic factors have been identified and it is unclear how most genetic changes influence the development of the disease. People with a gene variation that increases their risk of ALS likely require additional genetic and environmental triggers to develop the disorder.
### Learn more about the genes associated with Amyotrophic lateral sclerosis
* ALS2
* ATXN2
* C9orf72
* CHMP2B
* DCTN1
* FUS
* MATR3
* SETX
* SMN1
* SOD1
* SPG11
* SQSTM1
* TARDBP
* VCP
Additional Information from NCBI Gene:
* ANG
* CHCHD10
* ERBB4
* FIG4
* HNRNPA1
* NEFH
* OPTN
* PFN1
* PRPH
* SIGMAR1
* TBK1
* TRPM7
* TUBA4A
* UBQLN2
* VAPB
## Inheritance Pattern
About 90 to 95 percent of ALS cases are sporadic, which means they are not inherited.
An estimated 5 to 10 percent of ALS is familial and caused by mutations in one of several genes. The pattern of inheritance varies depending on the gene involved. Most cases are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Some people who inherit a familial genetic mutation known to cause ALS never develop features of the condition. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not.
Less frequently, ALS is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Because an affected person's parents are not affected, autosomal recessive ALS is often mistaken for sporadic ALS even though it is caused by a familial genetic mutation.
Very rarely, ALS is inherited in an X-linked dominant pattern. X-linked conditions occur when the gene associated with the condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males tend to develop the disease earlier and have a decreased life expectancy compared with females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Amyotrophic lateral sclerosis
|
c1862939
| 27,184 |
medlineplus
|
https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis/
| 2021-01-27T08:25:12 |
{"gard": ["5786"], "mesh": ["C531617"], "omim": ["105400", "612069", "612577", "613435", "613954", "300857", "614373", "614696", "614808", "615515", "205100", "615426", "616208", "606640", "602433", "602099", "608030", "608031", "608627", "611895", "105500", "105550", "615911", "616437", "616439"], "synonyms": []}
|
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 27 (MC1DN27) is caused by homozygous or compound heterozygous mutation in the MTFMT gene (611766) on chromosome 15q22.
For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Clinical Features
Haack et al. (2012) reported 2 patients with mitochondrial complex I deficiency manifesting as Leigh syndrome (see 256000). One patient had developmental delay, hypotonia, and ataxia. Complex I deficiency was 12% of control values in muscle. The other patient had mental retardation, spasticity, gaze palsy, and partial optic atrophy. Complex I activity in this patient was 16% of normal. Activities of complexes II, III, and IV were within normal limits in both patients.
Molecular Genetics
In 2 unrelated patients with mitochondrial complex I deficiency nuclear type 27 manifesting as Leigh syndrome, Haack et al. (2012) identified homozygosity or compound heterozygosity for mutations in the MTFMT gene (611766.0001 and 611766.0004).
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Gaze palsy \- Optic atrophy GENITOURINARY Bladder \- Neurogenic bladder dysfunction MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Developmental delay \- Impaired intellectual development \- Spasticity \- White matter abnormalities consistent with Leigh syndrome LABORATORY ABNORMALITIES \- Mitochondrial complex I deficiency in various tissues MISCELLANEOUS \- Onset in infancy \- Two unrelated patients have been reported (last curated January 2019) MOLECULAR BASIS \- Caused by mutation in the mitochondrial methionyl-tRNA formyltransferase gene (MTFMT, 611766.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
|
None
| 27,185 |
omim
|
https://www.omim.org/entry/618248
| 2019-09-22T15:42:49 |
{"omim": ["618248"], "orphanet": ["255241"], "synonyms": ["Infantile subacute necrotizing encephalopathy with leukodystrophy", "Leigh disease with leukodystrophy"]}
|
Sickle cell beta thalassemia
Other namesSickle cell-β thalassemia
SpecialtyHematology
Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell disease.[1][2]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 2.1 Mutations
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
Patients with sickle cell-beta thalassemia may present with painful crises similar to patients with sickle cell disease
## Cause[edit]
Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele from the other.[3]
### Mutations[edit]
A sickle allele is always the same mutation of the beta-globin gene (glutamic acid to valine at amino acid six). In contrast, beta-thalassemia alleles can be created by many different mutations including both deletion and non-deletion forms.
## Diagnosis[edit]
Patient may present with symptomatic anemia or with sickle crises. In the United States and other countries with new-born screening programs, the disease may be identified in neonates.[4]
Diagnostic tests include DNA sequencing, hemoglobin electrophoresis, and high-performance liquid chromatography.[5]
## Treatment[edit]
Treatment is the same as for patients with sickle cell disease. Patients may receive hydroxyurea to induce the protective effects of increased fetal hemoglobin production. They may also benefit from blood transfusions especially during vaso-occlusive crises. Patients may be offered chemoprophylaxis with penicillin. They may have splenic dysfunction and splenectomy is frequently performed. Vaccination against encapsulated bacteria including Streptococcus pneumoniae is recommended.
## References[edit]
1. ^ "Newborn Screening Program - Sickle Cell Beta Thalassemia Disease". www.idph.state.il.us. Retrieved 2015-06-18.
2. ^ Ashley-Koch, A; Yang, Q; Olney, R. S. (2000). "Sickle hemoglobin (HbS) allele and sickle cell disease: A HuGE review". American Journal of Epidemiology. 151 (9): 839–45. doi:10.1093/oxfordjournals.aje.a010288. PMID 10791557.
3. ^ "Hemoglobin S– β -Thalassemia Disease - Hematology and Oncology". Retrieved 2015-06-18.
4. ^ "Newborn Screening Program - Sickle Cell Beta Thalassemia Disease". www.idph.state.il.us. Retrieved 2015-06-18.
5. ^ Ashley-Koch, A; Yang, Q; Olney, R. S. (2000). "Sickle hemoglobin (HbS) allele and sickle cell disease: A HuGE review". American Journal of Epidemiology. 151 (9): 839–45. doi:10.1093/oxfordjournals.aje.a010288. PMID 10791557.
## External links[edit]
Classification
D
* ICD-10: D57.40, D57.40, D57.412, D57.419
* ICD-9-CM: 282.41, 282.42
* DiseasesDB: 29784
* v
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Sickle cell-beta thalassemia
|
c0221019
| 27,186 |
wikipedia
|
https://en.wikipedia.org/wiki/Sickle_cell-beta_thalassemia
| 2021-01-18T18:51:14 |
{"gard": ["10333"], "umls": ["C0857812", "C0221019"], "orphanet": ["251359"], "wikidata": ["Q24975487"]}
|
Scanning speech
Other namesExplosive speech
SpecialtyNeurology
Scanning speech is a type of ataxic dysarthria in which spoken words are broken up into separate syllables, often separated by a noticeable pause, and spoken with varying force.[1] The sentence "Walking is good exercise", for example, might be pronounced as "Walk (pause) ing is good ex (pause) er (pause) cise". Additionally, stress may be placed on unusual syllables.
The name is derived from literary scansion, because the speech pattern separates the syllables in a phrase much like scanning a poem counts the syllables in a line of poetry.[2]
There is no universal agreement about the exact definition of this term.[2] Some sources require only a noticeable pause between syllables, while others require other speech abnormalities, such as the unusual stress pattern on syllables. Some sources consider it a common, but not necessary, feature of ataxic dysarthria; others consider it exactly synonymous with ataxic dysarthria.[2]
## Contents
* 1 Cause
* 2 Management
* 3 References
* 4 External links
## Cause[edit]
Scanning speech, like other ataxic dysarthrias, is a symptom of lesions in the cerebellum.[1] It is a typical symptom of multiple sclerosis,[3] and it constitutes one of the three symptoms of Charcot's neurologic triad.[4]
Scanning speech may be accompanied by other symptoms of cerebellar damage, such as gait, truncal and limb ataxia, intention tremor, inaccuracies in rapidly repeated movements and sudden, abrupt nausea and vomiting. The handwriting of such patients may also be abnormally large.[5]
## Management[edit]
This section is empty. You can help by adding to it. (March 2018)
## References[edit]
1. ^ a b Horton-Szar, Dan (2009). Crash Course Neurology. Elsevier Limited. ISBN 978-0-7234-3469-6.
2. ^ a b c Terence R. Anthoney (1994). Neuroanatomy and the neurologic exam: a thesaurus of synonyms, similar-sounding non-synonyms, and terms of variable meaning. Boca Raton: CRC Press. pp. 482–483. ISBN 978-0-8493-8631-2.
3. ^ Stachowiak, Julie. "Scanning Speech". ms.about.com. Retrieved 2012-01-04.
4. ^ "Charcot's triad I". whonamedit.com. Retrieved 2012-01-04.
5. ^ Thomas, Huw. "Cerbellar Signs including Cerebellar Ataxia". Retrieved 2012-01-04.
## External links[edit]
Classification
D
* ICD-10: R47.1
* MeSH: D004401
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Scanning speech
|
c0278184
| 27,187 |
wikipedia
|
https://en.wikipedia.org/wiki/Scanning_speech
| 2021-01-18T18:44:36 |
{"umls": ["C0278184"], "icd-10": ["R47.1"], "wikidata": ["Q7430080"]}
|
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Anterior urethral cancer" – news · newspapers · books · scholar · JSTOR (January 2019)
Anterior urethral cancer
SpecialtyUrology/oncology
Anterior urethral cancer is a disease in which malignant cancer cells are found in the part of the urethra that is closest to the outside of the body.
## References[edit]
## External links[edit]
* National Cancer Institute Definition of Anterior urethral cancer
This oncology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Anterior urethral cancer
|
c0279930
| 27,188 |
wikipedia
|
https://en.wikipedia.org/wiki/Anterior_urethral_cancer
| 2021-01-18T18:51:18 |
{"umls": ["C0279930"], "wikidata": ["Q4771415"]}
|
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.
People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.
## Frequency
This condition affects an estimated 1 in 50,000 people.
## Causes
Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases. In individuals without an identified mutation in one of these genes, the genetic cause of the condition is unknown.
The proteins produced from the TCOF1, POLR1C, and POLR1D genes all appear to play important roles in the early development of bones and other tissues of the face. These proteins are involved in the production of a molecule called ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA helps assemble protein building blocks (amino acids) into new proteins, which is essential for the normal functioning and survival of cells. Mutations in the TCOF1, POLR1C, or POLR1D gene reduce the production of rRNA. Researchers speculate that a decrease in the amount of rRNA may trigger the self-destruction (apoptosis) of certain cells involved in the development of facial bones and tissues. The abnormal cell death could lead to the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of a reduction in rRNA are limited to facial development.
### Learn more about the genes associated with Treacher Collins syndrome
* POLR1C
* POLR1D
* TCOF1
## Inheritance Pattern
When Treacher Collins syndrome results from mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent.
When Treacher Collins syndrome is caused by mutations in the POLR1C gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Treacher Collins syndrome
|
c0242387
| 27,189 |
medlineplus
|
https://medlineplus.gov/genetics/condition/treacher-collins-syndrome/
| 2021-01-27T08:24:57 |
{"gard": ["9124"], "mesh": ["D008342"], "omim": ["154500", "613717", "248390"], "synonyms": []}
|
Ovarian carcinosarcoma, also known as a malignant mixed mullerian tumor (MMMT) of the ovary, is a rare, aggressive cancer of the ovary with characteristics of two types of cancer: carcinoma and sarcoma. Because women with this cancer often have no symptoms, more than half of women are diagnosed at an advanced stage. When present, symptoms may include pain in the abdomen or pelvic area, bloating or swelling of the abdomen, quickly feeling full when eating, or other digestive problems. The cause of ovarian carcinosarcoma is not yet understood. Treatment usually consists of surgery to remove the tumor and chemotherapy. The chance of recovery and long-term survival (prognosis) is poor, with a reported 5-year survival rate of about 28%.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Ovarian carcinosarcoma
|
c0392998
| 27,190 |
gard
|
https://rarediseases.info.nih.gov/diseases/7296/ovarian-carcinosarcoma
| 2021-01-18T17:58:30 |
{"umls": ["C0392998"], "orphanet": ["213512"], "synonyms": ["Malignant mixed mullerian tumor of the ovary", "Malignant mixed Müllerian tumor of the ovary", "MMMT of the ovary", "Ovarian malignant mixed Müllerian tumor", "Ovarian malignant mixed epithelial mesenchymal tumor"]}
|
2q37 deletion syndrome
Other namesBrachydactyly-intellectual disability syndrome, Albright hereditary osteodystrophy type 3
2q37 deletion syndrome is inherited in an autosomal dominant manner
2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2 in which one or more of 3 sub-bands, 2q37.1, 2q37.2, and 2q37.3, of the last band of one of the chromosome 2’s long arms are deleted.[1] The first report of this disorder was in 1989.[1]
## Contents
* 1 Symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Prognosis
* 5 See also
* 6 References
* 7 External links
## Symptoms[edit]
The earliest signs and symptoms occur in newborns and consist of hypotonia, but show up in youth as developmental delays, low muscle tone, learning disabilities, being overweight, autism-like symptoms, seizures, eczema, asthma, chest and ear infections, and abnormalities in face, hands, and feet such as brachydactyly.[2][3]
Autism-like symptoms consist of odd obsessions, repetitive behavior, poor use of eye contact, impaired speech, poor understanding of others’ emotions, idiosyncratic use of words or phrases.[3]
People with this disorder also tend to have a characteristic appearance, including prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal alae and prominent columella, thin upper lip, and various minor anomalies of the pinnae.[4]
Heart, brain, gastrointestinal, and kidney problems such as Wilms tumor,[5] and hernias, spinal curvatures, osteopenia, hearing and sight difficulties can also occur.[3]
## Diagnosis[edit]
Techniques used to diagnose this disorder are fluorescence in situ hybridization (FISH) and microarrays.[3] FISH uses fluorescent dyes to visualize sections under a microscope, but some changes are too small to see.[3] Microarray comparative genomic hybridization (array CGH) shows changes in small amounts DNA on chromosomes.[3]
## Treatment[edit]
Therapy can help developmental delays, as well as physiotherapy for the low muscle tone.[3] Exercise and healthy eating can reduce weight gain. Treatments are available for seizures, eczema, asthma, infections, and certain bodily ailments.
## Prognosis[edit]
While only a few adults have been reported with 2q37 microdeletion syndrome, it is predicted that this number will rise as various research studies continue to demonstrate that most with the disorder do not have a shortened life span.[6]
## See also[edit]
* GPC1
* 2q37 monosomy
## References[edit]
1. ^ a b Leroy C.; E. Landais; S. Briault; A. David; O. Tassy; N. Gruchy; B. Delobel; M. J. Grégoire; B. Leheup; L. Taine; D. Lacombe; M.A. Delrue; A. Toutain; A. Paubel; F. Mugneret; C. Thauvin-Robinet; S. Arpin; C. Le Caignec; P. Jonveaux; M. Beri; N. Leporrier; J. Motte; C. Fiquet; O. Brichet; M. Mozelle-Nivoix; P. Sabouraud; N. Golovkine; N. Bednarek; D. Gaillard; M. Doco-Fenzy (Jun 2013). "The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients". European Journal of Human Genetics. 21 (6): 602–12. doi:10.1038/ejhg.2012.230. PMC 3658200. PMID 23073310.
2. ^ Chaabouni M, Le Merrer M, Raoul O, et al. (2006). "Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region". European Journal of Medical Genetics. 49 (3): 255–63. doi:10.1016/j.ejmg.2005.07.001. PMID 16762827.
3. ^ a b c d e f g "2q37 deletion syndrome" (PDF). Rare Chromosome Disorder Support Group. Archived from the original (PDF) on 18 May 2015. Retrieved 8 April 2015.
4. ^ Falk, R.E. & K. A. Casas (15 Nov 2007). "Chromosome 2q37 deletion: Clinical and molecular aspects". Journal of Medical Genetics. 145C (4): 357–371. doi:10.1002/ajmg.c.30153. PMID 17910077. S2CID 25719005.
5. ^ Viot-Szoboszlai G, Amiel J, Doz F, et al. (1998). "Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome". Clin. Genet. 53 (4): 278–80. doi:10.1111/j.1399-0004.1998.tb02696.x. PMID 9650765. S2CID 22222281.
6. ^ Emily S Doherty & Felicitas L Lacbawan (3 May 2007). "2q37 Microdeletion Syndrome". GeneReviews: 18. Retrieved 8 April 2015.
## External links[edit]
Classification
D
* ICD-10: Q93.5
* MeSH: C538317
* DiseasesDB: 34425
* GeneReviews: 2q37 deletion syndrome
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
2q37 deletion syndrome
|
c2931817
| 27,191 |
wikipedia
|
https://en.wikipedia.org/wiki/2q37_deletion_syndrome
| 2021-01-18T18:38:26 |
{"mesh": ["C538317"], "wikidata": ["Q15428809"]}
|
Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy. However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Mesangial proliferative glomerulonephritis
|
c0221238
| 27,192 |
gard
|
https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis
| 2021-01-18T17:59:08 |
{"umls": ["C0221238"], "synonyms": ["Glomerulonephritis - mesangial proliferative", "Mesangial proliferative GN", "Mesangioproliferative glomerulonephritis"]}
|
Inflammation of the trachea
Tracheitis
Other namesInflammation of the trachea
Anatomy of the trachea
SpecialtyPulmonology
Tracheitis is an inflammation of the trachea.[1] Although the trachea is usually considered part of the lower respiratory tract,[2] in ICD-10 tracheitis is classified under "acute upper respiratory infections".[3]
## Contents
* 1 Symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Symptoms[edit]
* Increasing deep or barking croup cough following a recent upper respiratory infection
* Crowing sound when inhaling (inspiratory stridor)
* 'Scratchy' feeling in the throat
* Chest pain
* Fever
* Ear ache
* Headache
* Dizziness (light headed)
* Labored breathing
## Causes[edit]
Bacterial tracheitis is a bacterial infection of the trachea and is capable of producing airway obstruction.[citation needed]
One of the most common causes is Staphylococcus aureus and often follows a recent viral upper respiratory infection. Bacterial tracheitis is a rare complication of influenza infection.[4] It is the most serious in young children, possibly because of the relatively small size of the trachea that gets easily blocked by swelling. The most frequent sign is the rapid development of stridor. It is occasionally confused with croup. If it is inflamed, a condition known as tracheitis can occur. In this condition there can be inflammation of the linings of the trachea. A condition called tracheo-bronchitis can be caused, when the mucous membrane of the trachea and bronchi swell. A collapsed trachea is formed as a result of defect in the cartilage, that makes the cartilage unable to support the trachea and results in dry hacking cough. In this condition there can be inflammation of the linings of the trachea. If the connective nerve tissues in the trachea degenerate it causes tracheomalacia. Infections to the trachea can cause tracheomegaly.[citation needed]
## Diagnosis[edit]
The diagnosis of tracheitis requires the direct vision of exudates or pseudomembranes on the trachea. X-ray findings may include subglottic narrowing. The priority is to secure the patient's airway, and to rule out croup and epiglottitis which may be fatal. Suspicion for tracheitis should be high in cases of onset of airway obstruction that do not respond to racemic epinephrine.[citation needed]
## Treatment[edit]
In more severe cases, it is treated by administering intravenous antibiotics and may require admission to an intensive care unit (ICU) for intubation and supportive ventilation if the airway swelling is severe. During an intensive care admission, various methods of invasive and non-invasive monitoring may be required, which may include ECG monitoring, oxygen saturation, capnography and arterial blood pressure monitoring.[citation needed]
## References[edit]
1. ^ "Tracheitis" at Dorland's Medical Dictionary
2. ^ Patwa, Apeksh; Shah, Amit (September 2015). "Anatomy and physiology of respiratory system relevant to anaesthesia". Indian Journal of Anaesthesia. 59 (9): 533–541. doi:10.4103/0019-5049.165849. ISSN 0019-5049. PMC 4613399. PMID 26556911.
3. ^ "J04.1 Acute tracheitis". ICD-10 Version. 2014. Retrieved 2020-08-08.
4. ^ medicine, s cecil. Goldman (24th ed.). Philadelphia: Elsevier Saunders. p. 1326. ISBN 978-1-4377-2788-3.
## External links[edit]
Classification
D
* ICD-10: J04.1, J42
* ICD-9-CM: 464.1
* MeSH: D014136
External resources
* MedlinePlus: 000988
* eMedicine: ped/200
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
Rhinorrhea
nasal septum
Nasal septum deviation
Nasal septum perforation
Nasal septal hematoma
tonsil
Tonsillitis
Adenoid hypertrophy
Peritonsillar abscess
Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
Laryngomalacia
Laryngeal cyst
Laryngitis
Laryngopharyngeal reflux (LPR)
Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Tracheitis
|
c0040584
| 27,193 |
wikipedia
|
https://en.wikipedia.org/wiki/Tracheitis
| 2021-01-18T18:32:08 |
{"mesh": ["D014136"], "umls": ["C0149513", "C0040584"], "wikidata": ["Q946278"]}
|
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Autoimmune interstitial lung disease-arthritis syndrome
|
c4225334
| 27,194 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=444092
| 2021-01-23T17:08:04 |
{"omim": ["616414"], "icd-10": ["J84.8"], "synonyms": ["COPA syndrome"]}
|
Morsicatio buccarum
Other namesChronic cheek biting and Chronic cheek chewing
SpecialtyOral medicine
Morsicatio buccarum is a condition characterized by chronic irritation or injury to the buccal mucosa (the lining of the inside of the cheek within the mouth), caused by repetitive chewing, biting or nibbling.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 3.1 Classification
* 4 Treatment
* 5 Epidemiology
* 6 References
* 7 External links
## Signs and symptoms[edit]
The lesions are located on the mucosa, usually bilaterally in the central part of the anterior buccal mucosa and along the level of the occlusal plane (the level at which the upper and lower teeth meet). Sometimes the tongue or the labial mucosa (the inside lining of the lips) is affected by a similarly produced lesion, termed morsicatio linguarum and morsicatio labiorum respectively.[2] There may be a coexistent linea alba, which corresponds to the occlusal plane,[3] or crenated tongue. The lesions are white with thickening and shredding of mucosa commonly combined with intervening zones of erythema (redness) or ulceration.[2] The surface is irregular, and people may occasionally have loose sections of mucosa that comes away.
## Causes[edit]
The cause is chronic parafunctional activity of the masticatory system, which produces frictional, crushing and incisive damage to the mucosal surface and over time the characteristic lesions develop. Most people are aware of a cheek chewing habit, although it may be performed subconsciously.[2] Sometimes poorly constructed prosthetic teeth may be the cause if the original bite is altered. Usually the teeth are placed too far facially (i.e. buccally and/or labially), outside the "neutral zone", which is the term for the area where the dental arch is usually situated, where lateral forces between the tongue and cheek musculature are in balance. Glassblowing involves chronic suction and may produce similar irritation of the buccal mucosa.[2] Identical, or more severe damage may be caused by self-mutilation in people with psychiatric disorders, learning disabilities or rare syndromes (e.g. Lesch–Nyhan syndrome and familial dysautonomia).[3]
## Diagnosis[edit]
The diagnosis is usually made on the clinical appearance alone, and biopsy is not usually indicated. The histologic appearance is one of marked hyperparakeratosis producing a ragged surface with many projections of keratin. Typically there is superficial colonization by bacteria. There may be vacuolated cells in the upper portion of the prickle cell layer. There is a similarity between this appearance and that of hairy leukoplakia, linea alba and leukoedema.[2] In people with human immunodeficiency virus, who are at higher risk of oral hairy leukoplakia, a tissue biopsy may be required to differentiate between this and frictional keratosis from cheek and tongue chewing.
### Classification[edit]
Morsicatio buccarum is a type of frictional keratosis.[3] The term is derived from the Latin words, morusus meaning "bite" and bucca meaning "cheek".[4] This term has been described as "a classic example of medical terminology gone astray".[2]
The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) states that cheek biting may be a manifestation of body-focused repetitive behavior disorder.[5]
## Treatment[edit]
The lesions are harmless, and no treatment is indicated beyond reassurance, unless the person requests it. The most common and simple treatment is construction of a specially made acrylic prosthesis that covers the biting surfaces of the teeth and protects the cheek, tongue and labial mucosa (an occlusal splint). This is either employed in the short term as a habit breaking intention, or more permanently (e.g. wearing the prosthesis each night during sleep). Psychological intervention is also reported, but does not appear to be beneficial.[2]
## Epidemiology[edit]
This phenomenon is fairly common, with one in every 800 adults showing evidence of active lesions at any one time. It is more common in people who are experiencing stress or psychological conditions. The prevalence in females is double the prevalence in males, and it is two or three times more prevalent in people over the age of thirty-five.[2]
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.[page needed]
2. ^ a b c d e f g h Bouquot, Jerry E.; Brad W. Neville; Douglas D. Damm; Carl M. Allen (2002). Oral & maxillofacial pathology (2. ed.). Philadelphia: W.B. Saunders. pp. 253–254. ISBN 0721690033.
3. ^ a b c Scully, Crispian (2008). Oral and maxillofacial medicine : the basis of diagnosis and treatment (2nd ed.). Edinburgh: Churchill Livingstone. pp. 223, 349. ISBN 9780443068188.
4. ^ "Online Etymology Dictionary". Retrieved 4 February 2013.
5. ^ American Psychiatric Association (2013). Diagnostic and statistical manual of mental disorders : DSM-5 (5th ed.). American Psychiatric Pub. ISBN 9780890425572.
## External links[edit]
Classification
D
* ICD-10: K13.1 (ILDSlK13.110)
* v
* t
* e
Oral and maxillofacial pathology
Lips
* Cheilitis
* Actinic
* Angular
* Plasma cell
* Cleft lip
* Congenital lip pit
* Eclabium
* Herpes labialis
* Macrocheilia
* Microcheilia
* Nasolabial cyst
* Sun poisoning
* Trumpeter's wart
Tongue
* Ankyloglossia
* Black hairy tongue
* Caviar tongue
* Crenated tongue
* Cunnilingus tongue
* Fissured tongue
* Foliate papillitis
* Glossitis
* Geographic tongue
* Median rhomboid glossitis
* Transient lingual papillitis
* Glossoptosis
* Hypoglossia
* Lingual thyroid
* Macroglossia
* Microglossia
* Rhabdomyoma
Palate
* Bednar's aphthae
* Cleft palate
* High-arched palate
* Palatal cysts of the newborn
* Inflammatory papillary hyperplasia
* Stomatitis nicotina
* Torus palatinus
Oral mucosa – Lining of mouth
* Amalgam tattoo
* Angina bullosa haemorrhagica
* Behçet's disease
* Bohn's nodules
* Burning mouth syndrome
* Candidiasis
* Condyloma acuminatum
* Darier's disease
* Epulis fissuratum
* Erythema multiforme
* Erythroplakia
* Fibroma
* Giant-cell
* Focal epithelial hyperplasia
* Fordyce spots
* Hairy leukoplakia
* Hand, foot and mouth disease
* Hereditary benign intraepithelial dyskeratosis
* Herpangina
* Herpes zoster
* Intraoral dental sinus
* Leukoedema
* Leukoplakia
* Lichen planus
* Linea alba
* Lupus erythematosus
* Melanocytic nevus
* Melanocytic oral lesion
* Molluscum contagiosum
* Morsicatio buccarum
* Oral cancer
* Benign: Squamous cell papilloma
* Keratoacanthoma
* Malignant: Adenosquamous carcinoma
* Basaloid squamous carcinoma
* Mucosal melanoma
* Spindle cell carcinoma
* Squamous cell carcinoma
* Verrucous carcinoma
* Oral florid papillomatosis
* Oral melanosis
* Smoker's melanosis
* Pemphigoid
* Benign mucous membrane
* Pemphigus
* Plasmoacanthoma
* Stomatitis
* Aphthous
* Denture-related
* Herpetic
* Smokeless tobacco keratosis
* Submucous fibrosis
* Ulceration
* Riga–Fede disease
* Verruca vulgaris
* Verruciform xanthoma
* White sponge nevus
Teeth (pulp, dentin, enamel)
* Amelogenesis imperfecta
* Ankylosis
* Anodontia
* Caries
* Early childhood caries
* Concrescence
* Failure of eruption of teeth
* Dens evaginatus
* Talon cusp
* Dentin dysplasia
* Dentin hypersensitivity
* Dentinogenesis imperfecta
* Dilaceration
* Discoloration
* Ectopic enamel
* Enamel hypocalcification
* Enamel hypoplasia
* Turner's hypoplasia
* Enamel pearl
* Fluorosis
* Fusion
* Gemination
* Hyperdontia
* Hypodontia
* Maxillary lateral incisor agenesis
* Impaction
* Wisdom tooth impaction
* Macrodontia
* Meth mouth
* Microdontia
* Odontogenic tumors
* Keratocystic odontogenic tumour
* Odontoma
* Dens in dente
* Open contact
* Premature eruption
* Neonatal teeth
* Pulp calcification
* Pulp stone
* Pulp canal obliteration
* Pulp necrosis
* Pulp polyp
* Pulpitis
* Regional odontodysplasia
* Resorption
* Shovel-shaped incisors
* Supernumerary root
* Taurodontism
* Trauma
* Avulsion
* Cracked tooth syndrome
* Vertical root fracture
* Occlusal
* Tooth loss
* Edentulism
* Tooth wear
* Abrasion
* Abfraction
* Acid erosion
* Attrition
Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures
* Cementicle
* Cementoblastoma
* Gigantiform
* Cementoma
* Eruption cyst
* Epulis
* Pyogenic granuloma
* Congenital epulis
* Gingival enlargement
* Gingival cyst of the adult
* Gingival cyst of the newborn
* Gingivitis
* Desquamative
* Granulomatous
* Plasma cell
* Hereditary gingival fibromatosis
* Hypercementosis
* Hypocementosis
* Linear gingival erythema
* Necrotizing periodontal diseases
* Acute necrotizing ulcerative gingivitis
* Pericoronitis
* Peri-implantitis
* Periodontal abscess
* Periodontal trauma
* Periodontitis
* Aggressive
* As a manifestation of systemic disease
* Chronic
* Perio-endo lesion
* Teething
Periapical, mandibular and maxillary hard tissues – Bones of jaws
* Agnathia
* Alveolar osteitis
* Buccal exostosis
* Cherubism
* Idiopathic osteosclerosis
* Mandibular fracture
* Microgenia
* Micrognathia
* Intraosseous cysts
* Odontogenic: periapical
* Dentigerous
* Buccal bifurcation
* Lateral periodontal
* Globulomaxillary
* Calcifying odontogenic
* Glandular odontogenic
* Non-odontogenic: Nasopalatine duct
* Median mandibular
* Median palatal
* Traumatic bone
* Osteoma
* Osteomyelitis
* Osteonecrosis
* Bisphosphonate-associated
* Neuralgia-inducing cavitational osteonecrosis
* Osteoradionecrosis
* Osteoporotic bone marrow defect
* Paget's disease of bone
* Periapical abscess
* Phoenix abscess
* Periapical periodontitis
* Stafne defect
* Torus mandibularis
Temporomandibular joints, muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities
* Bruxism
* Condylar resorption
* Mandibular dislocation
* Malocclusion
* Crossbite
* Open bite
* Overbite
* Overeruption
* Overjet
* Prognathia
* Retrognathia
* Scissor bite
* Maxillary hypoplasia
* Temporomandibular joint dysfunction
Salivary glands
* Benign lymphoepithelial lesion
* Ectopic salivary gland tissue
* Frey's syndrome
* HIV salivary gland disease
* Necrotizing sialometaplasia
* Mucocele
* Ranula
* Pneumoparotitis
* Salivary duct stricture
* Salivary gland aplasia
* Salivary gland atresia
* Salivary gland diverticulum
* Salivary gland fistula
* Salivary gland hyperplasia
* Salivary gland hypoplasia
* Salivary gland neoplasms
* Benign: Basal cell adenoma
* Canalicular adenoma
* Ductal papilloma
* Monomorphic adenoma
* Myoepithelioma
* Oncocytoma
* Papillary cystadenoma lymphomatosum
* Pleomorphic adenoma
* Sebaceous adenoma
* Malignant: Acinic cell carcinoma
* Adenocarcinoma
* Adenoid cystic carcinoma
* Carcinoma ex pleomorphic adenoma
* Lymphoma
* Mucoepidermoid carcinoma
* Sclerosing polycystic adenosis
* Sialadenitis
* Parotitis
* Chronic sclerosing sialadenitis
* Sialectasis
* Sialocele
* Sialodochitis
* Sialosis
* Sialolithiasis
* Sjögren's syndrome
Orofacial soft tissues – Soft tissues around the mouth
* Actinomycosis
* Angioedema
* Basal cell carcinoma
* Cutaneous sinus of dental origin
* Cystic hygroma
* Gnathophyma
* Ludwig's angina
* Macrostomia
* Melkersson–Rosenthal syndrome
* Microstomia
* Noma
* Oral Crohn's disease
* Orofacial granulomatosis
* Perioral dermatitis
* Pyostomatitis vegetans
Other
* Eagle syndrome
* Hemifacial hypertrophy
* Facial hemiatrophy
* Oral manifestations of systemic disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Morsicatio buccarum
|
c0562668
| 27,195 |
wikipedia
|
https://en.wikipedia.org/wiki/Morsicatio_buccarum
| 2021-01-18T18:44:08 |
{"umls": ["C0562668"], "icd-10": ["K13.1"], "wikidata": ["Q1948630"]}
|
Lupus and pregnancy can present some particular challenges for both mother and child.
While most infants born to mothers who have lupus are healthy, mothers with lupus as a pre-existing disease in pregnancy should remain under medical care until delivery.[1] In general, women with lupus and, in addition, hypertension, proteinuria, and azotemia have an extra increased risk for pregnancy complications.[2][3] Pregnancy outcomes in women with lupus who receive kidney transplants are similar to those of transplant recipients without lupus.[2]
Women pregnant and known to have anti-Ro (SSA) or anti-La antibodies (SSB) often have echocardiograms during the 16th and 30th weeks of pregnancy to monitor the health of the heart and surrounding vasculature.[4]
Contraception and other reliable forms of pregnancy prevention is routinely advised for women with lupus, since getting pregnant during active disease was found to be harmful. Lupus nephritis was the most common manifestation.
Of live births, approximately one third are delivered prematurely.[2]
## Contents
* 1 Miscarriage
* 2 Neonatal lupus
* 3 Aggravation of lupus
* 4 General preventive measures
* 5 References
* 6 External links
## Miscarriage[edit]
Lupus causes an increased rate of fetal death in utero and spontaneous abortion (miscarriage). The overall live-birth rate in somebody with lupus has been estimated to be 72%.[5] Pregnancy outcome appears to be worse in those with lupus whose disease flares up during pregnancy.[6]
Miscarriages in the first trimester appear either to have no known cause or to be associated with signs of active lupus.[7] Later losses appear to occur primarily due to the antiphospholipid syndrome, in spite of treatment with heparin and aspirin.[7] All women with lupus, even those without previous history of miscarriage, are recommended to be screened for antiphospholipid antibodies, both the lupus anticoagulant (the RVVT and sensitive PTT are the best screening battery) and anticardiolipin antibodies.[7]
## Neonatal lupus[edit]
Neonatal lupus is the occurrence of lupus symptoms in an infant born from a mother with lupus, most commonly presenting with a rash resembling discoid lupus erythematosus, and sometimes with systemic abnormalities such as heart block or hepatosplenomegaly.[8] Neonatal lupus is usually benign and self-limited.[8] Still, identification of mothers at highest risk for complications allows for prompt treatment before or after birth. In addition, lupus can flare up during pregnancy, and proper treatment can maintain the health of the mother for longer.[9]
## Aggravation of lupus[edit]
Aggravation (or exacerbation) of lupus has been estimated to occur in about 20-30% pregnancies where the mother has lupus.[2] Increased disease activity of lupus is expected during pregnancy because of increased levels of estrogen, prolactin, and certain cytokines.[2] However, a long time of remission before pregnancy decreases the risk of aggravation,[10] with an incidence of 7-33% in women who have been in remission for at least 6 months, and an incidence of 61-67% in women who have active lupus at the time of conception.[2]
Renal disease flare-up is the most common presentation of lupus aggravation in pregnancy, and is seen equally in United States and European populations.[2] Serositis with pleural and pericardial effusions are seen in up to 10% of these patients.[2]
On the other hand, flares of lupus are uncommon during pregnancy and are often easily treated.[2] The most common symptoms of these flares include arthritis, rashes, and fatigue.[2]
Also, in the postpartum period, there may be exacerbations of lupus due to decreased levels of anti-inflammatory steroids, elevated levels of prolactin and estrogen and progesterone changes.[2]
In diagnosing an aggravation of lupus in pregnancy, there need to be a differential diagnosis from lupus-unrelated complications of pregnancy that may appear in a similar fashion. For example, chloasma may appear like the malar rash of lupus, proteinuria from preeclampsia may appear like that of lupus nephritis, thrombocytopenia of the HELLP syndrome may appear like that of lupus, and pregnancy-related edema of joints can appear like arthritis of lupus.[2]
## General preventive measures[edit]
Continuing glucocorticoids at the lowest effective dose and/or cautious use of azathioprine may be preferred in some patients, but needs to be weighed against potential adverse effects of such medications.[2]
## References[edit]
1. ^ "Planning a pregnancy when you have lupus | Lupus Foundation of America". www.lupus.org. Retrieved 2020-10-25.
2. ^ a b c d e f g h i j k l m Systemic Lupus Erythematosus and Pregnancy at Medscape. Author: Ritu Khurana. Chief Editor: David Chelmow. Updated: Sep 20, 2010
3. ^ "Planning a pregnancy when you have lupus | Lupus Foundation of America". www.lupus.org. Retrieved 2020-10-25.
4. ^ "Handout on Health: Systemic Lupus Erythematosus". The National Institute of Arthritis and Musculoskeletal and Skin Diseases. National Institutes of Health. August 2003. Retrieved 2007-11-23.
5. ^ Smyth, Andrew; Guilherme H.M. Oliveira; Brian D. Lahr; Kent R. Bailey; Suzanne M. Norby; Vesna D. Garovic (November 2010). "A Systematic Review and Meta-Analysis of Pregnancy Outcomes in Patients with Systemic Lupus Erythematosus and Lupus Nephritis". Clinical Journal of the American Society of Nephrology. 5 (11): 2060–2068. doi:10.2215/CJN.00240110. PMC 3001786. PMID 20688887. Retrieved 20 April 2011.
6. ^ Cortés‐Hernández, J.; J. Ordi‐Ros; F. Paredes; M. Casellas; F. Castillo; M. Vilardell‐Tarres (June 2002). "Clinical predictors of fetal and maternal outcome in systemic lupus erythematosus: a prospective study of 103 pregnancies". Rheumatology. 41 (6): 643–650. doi:10.1093/rheumatology/41.6.643. PMID 12048290. Retrieved 20 April 2011.
7. ^ a b c Lupus and Pregnancy by Michelle Petri. The Johns Hopkins Lupus Center. Retrieved May 2011
8. ^ a b thefreedictionary.com > neonatal lupus Citing: Dorland's Medical Dictionary for Health Consumers. Copyright 2007
9. ^ "Pregnancy". Retrieved 23 July 2017.
10. ^ "Praticar Exercicios Durante Gravidez". Barriga Sonho. Retrieved 6 September 2017.
## External links[edit]
* Systemic Lupus Erythematosus and Pregnancy at Medscape. Author: Ritu Khurana. Chief Editor: David Chelmow.
* [1]
* v
* t
* e
Pregnancy and childbirth
Planning
* Birth control
* Natural family planning
* Pre-conception counseling
Conception
* Assisted reproductive technology
* Artificial insemination
* Fertility medication
* In vitro fertilisation
* Fertility awareness
* Unintended pregnancy
Testing
* 3D ultrasound
* Obstetric ultrasonography
* Pregnancy test
* Home testing
* Prenatal diagnosis
Prenatal
Anatomy
* Amniotic fluid
* Amniotic sac
* Endometrium
* Placenta
Development
* Fundal height
* Gestational age
* Human embryogenesis
* Maternal physiological changes
* Postpartum physiological changes
Care
* Nutrition
* Environmental toxicants
* In pregnancy
* Prenatal
* Concomitant conditions
* Drinking
* Diabetes mellitus
* Smoking
* Vaping
* SLE
* Sexual activity during pregnancy
Procedures
* Amniocentesis
* Cardiotocography
* Chorionic villus sampling
* Nonstress test
* Abortion
Childbirth
Preparation
* Bradley method
* Hypnobirthing
* Lamaze
* Nesting instinct
Roles
* Doula
* Birth attendant
* Men's roles
* Midwife
* Obstetrician
* Perinatal nurse
* Traditional birth attendant
Delivery
* Bloody show
* Childbirth positions
* Home birth
* Multiple birth
* Natural childbirth
* Pelvimetry / Bishop score
* Cervical dilation
* Cervical effacement
* Position
* Presentation
* Breech
* Cephalic
* Shoulder
* Rupture of membranes
* Unassisted childbirth
* Uterine contraction
* Water birth
Postpartum
Maternal
* Postpartum confinement
* Sex after pregnancy
* Psychiatric disorders of childbirth
* Postpartum physiological changes
Roles
* Doula
* Health visitor
* Lactation consultant
* Monthly nurse
* Confinement nanny
Infant
* Adaptation to extrauterine life
* Child care
* Congenital disorders
Obstetric history
* Gravidity and parity
* v
* t
* e
Pathology of pregnancy, childbirth and the puerperium
Pregnancy
Pregnancy with
abortive outcome
* Abortion
* Ectopic pregnancy
* Abdominal
* Cervical
* Interstitial
* Ovarian
* Heterotopic
* Embryo loss
* Fetal resorption
* Molar pregnancy
* Miscarriage
* Stillbirth
Oedema, proteinuria and
hypertensive disorders
* Gestational hypertension
* Pre-eclampsia
* HELLP syndrome
* Eclampsia
Other, predominantly
related to pregnancy
Digestive system
* Acute fatty liver of pregnancy
* Gestational diabetes
* Hepatitis E
* Hyperemesis gravidarum
* Intrahepatic cholestasis of pregnancy
Integumentary system /
dermatoses of pregnancy
* Gestational pemphigoid
* Impetigo herpetiformis
* Intrahepatic cholestasis of pregnancy
* Linea nigra
* Prurigo gestationis
* Pruritic folliculitis of pregnancy
* Pruritic urticarial papules and plaques of pregnancy (PUPPP)
* Striae gravidarum
Nervous system
* Chorea gravidarum
Blood
* Gestational thrombocytopenia
* Pregnancy-induced hypercoagulability
Maternal care related to the
fetus and amniotic cavity
* amniotic fluid
* Oligohydramnios
* Polyhydramnios
* Braxton Hicks contractions
* chorion / amnion
* Amniotic band syndrome
* Chorioamnionitis
* Chorionic hematoma
* Monoamniotic twins
* Premature rupture of membranes
* Obstetrical bleeding
* Antepartum
* placenta
* Circumvallate placenta
* Monochorionic twins
* Placenta accreta
* Placenta praevia
* Placental abruption
* Twin-to-twin transfusion syndrome
Labor
* Amniotic fluid embolism
* Cephalopelvic disproportion
* Dystocia
* Shoulder dystocia
* Fetal distress
* Locked twins
* Nuchal cord
* Obstetrical bleeding
* Postpartum
* Pain management during childbirth
* placenta
* Placenta accreta
* Preterm birth
* Postmature birth
* Umbilical cord prolapse
* Uterine inversion
* Uterine rupture
* Vasa praevia
Puerperal
* Breastfeeding difficulties
* Low milk supply
* Cracked nipples
* Breast engorgement
* Childbirth-related posttraumatic stress disorder
* Diastasis symphysis pubis
* Postpartum bleeding
* Peripartum cardiomyopathy
* Postpartum depression
* Postpartum psychosis
* Postpartum thyroiditis
* Puerperal fever
* Puerperal mastitis
Other
* Concomitant conditions
* Diabetes mellitus
* Systemic lupus erythematosus
* Thyroid disorders
* Maternal death
* Sexual activity during pregnancy
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Lupus and pregnancy
|
None
| 27,196 |
wikipedia
|
https://en.wikipedia.org/wiki/Lupus_and_pregnancy
| 2021-01-18T19:04:23 |
{"wikidata": ["Q7663817"]}
|
Longest word in the English language published in a dictionary
This article is about the term used to describe a form of occupational lung disease. For the article about the disease itself, see Silicosis.
Pneumonoultramicroscopicsilicovolcanoconiosis (/ˌnjuːmənoʊˌʌltrəˌmaɪkrəˈskɒpɪkˌsɪlɪkoʊvɒlˌkeɪnoʊˌkoʊniˈoʊsɪs/ (listen)[1][2]) is a word coined by the president of the National Puzzlers' League as a synonym for the disease known as silicosis. It is the longest word in the English language published in a dictionary, Oxford Dictionaries, which defines it as "an artificial long word said to mean a lung disease caused by inhaling very fine ash and sand dust".[3]
Silicosis is a form of occupational lung disease caused by inhalation of crystalline silica dust, and is marked by inflammation and scarring in the form of nodular lesions in the upper lobes of the lungs. It is a type of pneumoconiosis.
## Contents
* 1 Etymology
* 2 See also
* 3 References
* 4 External links
## Etymology
This word was invented in the annual meeting of the National Puzzlers' League (N.P.L.) by its president Everett M. Smith. The word featured in the headline for an article published by the New York Herald Tribune on February 23, 1935, titled "Puzzlers Open 103rd Session Here by Recognizing 45-Letter Word":
> Pneumonoultramicroscopicsilicovolcanoconiosis succeeded electrophotomicrographically as the longest word in the English language recognized by the National Puzzlers' League at the opening session of the organization's 103rd semi-annual meeting held yesterday at the Hotel New Yorker. The puzzlers explained that the forty-five-letter word is the synonym of a special form of pneumoconiosis caused by ultra-microscopic particles of silica volcanic dust...
Subsequently, the word was used in a puzzle book, Bedside Manna, after which time, members of the N.P.L. campaigned to include the word in major dictionaries.[4]
This 45-letter word, referred to as "P45",[5] first appeared in the 1939 supplement to the Merriam-Webster New International Dictionary, Second Edition.[6]
## See also
Look up pneumono… in Wiktionary, the free dictionary.
* Coalworker's pneumoconiosis
* Health hazards of vog
* List of long place names
* Longest words in English
* Supercalifragilisticexpialidocious
## References
1. ^ "Pneumonoultramicroscopicsilicovolcanoconiosis". Oxford Dictionaries UK Dictionary. Oxford University Press. Retrieved 2017-10-10.
2. ^ "Pneumonoultramicroscopicsilicovolcanoconiosis". Merriam-Webster Dictionary.
3. ^ "Definition of pneumonoultramicroscopicsilicovolcanoconiosis in Oxford dictionary (British and World English)". Oxford Dictionaries. Oxford University Press. Archived from the original on 2012-07-19.
4. ^ Cole, Chris (1999). Wordplay, A Curious Dictionary of Language Oddities. Sterling Publishing Co., Inc. pp. 106–107. ISBN 0-8069-1797-0.
5. ^ Cole, Chris. (1989.) "The Biggest Hoax" Archived 2014-08-10 at the Wayback Machine. Word Ways: The Journal of Recreational Linguistics, via wordways.com. Retrieved on 2007-10-08.
6. ^ Miller, Jeff. "A collection of word oddities and trivia: page 11, long words". (Personal website.) Retrieved on 2007-10-08.
## External links
Classification
D
* ICD-10: J62.8
* ICD-9-CM: 502, 505
* MeSH: D012829
* DiseasesDB: 12117
External resources
* MedlinePlus: 000134
* eMedicine: med/2127
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Pneumonoultramicroscopicsilicovolcanoconiosis
|
None
| 27,197 |
wikipedia
|
https://en.wikipedia.org/wiki/Pneumonoultramicroscopicsilicovolcanoconiosis
| 2021-01-18T19:10:20 |
{"wikidata": ["Q102"]}
|
Series of raids and arrests in the US, in 1919 and 1920
A. Mitchell Palmer
The Palmer Raids were a series of raids conducted in November 1919 and January 1920 during the First Red Scare by the United States Department of Justice under the administration of President Woodrow Wilson to capture and arrest suspected leftists, mostly Italian and Eastern European immigrants and especially anarchists and communists, and deport them from the United States. The raids particularly targeted Italian immigrants and Eastern European Jewish immigrants with alleged leftist ties, with particular focus on Italian anarchists and immigrant leftist labor activists. The raids and arrests occurred under the leadership of Attorney General A. Mitchell Palmer, with 3,000 arrested. Though 556 foreign citizens were deported, including a number of prominent leftist leaders, Palmer's efforts were largely frustrated by officials at the U.S. Department of Labor, which had authority for deportations and objected to Palmer's methods.
The Palmer Raids occurred in the larger context of the Red Scare, the reaction against communists in the U.S. in the years immediately following World War I and the Russian Revolution.[1] There were strikes that garnered national attention, race riots in more than 30 cities, and two sets of bombings in April and June 1919, including one bomb mailed to Palmer's home.
## Contents
* 1 Background
* 2 Preparations
* 3 Raids and arrests in January 1920
* 4 Aftermath
* 5 See also
* 6 References
* 7 General bibliography
* 8 External links
## Background[edit]
During the First World War, there was a nationwide campaign in the United States against the real and imagined divided political loyalties of immigrants and ethnic groups, who were feared to have too much loyalty for their nations of origin. Particular targets were the communists, the Germans with sympathies for their homeland, and the Irish, who were in revolt against America's ally, the United Kingdom. In 1915, President Wilson warned against hyphenated Americans who, he charged, had "poured the poison of disloyalty into the very arteries of our national life." "Such creatures of passion, disloyalty and anarchy", Wilson continued "must be crushed out".[2] The Russian Revolutions of 1917 added special force to fear of labor agitators and partisans of ideologies like anarchism and communism. The general strike in Seattle in February 1919 represented a new development in labor unrest.[3]
The fears of Wilson and other government officials were confirmed when Galleanists—Italian followers of the anarchist Luigi Galleani—carried out a series of bombings in April and June 1919.[4] At the end of April, some 30 Galleanist letter bombs had been mailed to a host of individuals, mostly prominent government officials and businessmen, but also law enforcement officials.[4] Only a few reached their targets, and not all exploded when opened. Some people suffered injuries, including a housekeeper in Senator Thomas W. Hardwick's residence, who had her hands blown off.[4] On June 2, 1919, the second wave of bombings occurred, when several much larger package bombs were detonated by Galleanists in eight American cities, including one that damaged the home of Attorney General A. Mitchell Palmer in Washington, D.C.[4] At least one person was killed in this second attack, night watchman William Boehner, and fears were raised because it occurred in the capital.[4][5][6] Flyers declaring war on capitalists in the name of anarchist principles accompanied each bomb.[4]
## Preparations[edit]
Part of the Politics series on
Anarchism
Schools of thought
* Black
* Christian
* Collectivist
* Communist
* Egoist
* Epistemological
* Existentialist
* Feminist
* Green
* Independence
* Individualist
* Insurrectionary
* Jewish
* Mutualist
* Naturist
* Pacifist
* Philosophical
* Platformist
* Post-anarchism
* Post-colonial
* Post-left
* Primitivist
* Queer
* Social
* Syndicalist
* Synthesist
* Without adjectives
* Theory
* Practice
* Anarchy
* Anarchist Black Cross
* Anarchist criminology
* Anationalism
* Anti-authoritarianism
* Anti-capitalism
* Anti-militarism
* Affinity group
* Autonomous social center
* Black bloc
* Classless society
* Class struggle
* Communes
* Consensus democracy
* Conscientious objector
* Decentralization
* Deep ecology
* Direct action
* Direct democracy
* Especifismo
* Expropriative anarchism
* Free association
* Free love
* Freed market
* Freethought
* Horizontalidad
* Illegalism
* Individualism
* Individual reclamation
* Isocracy
* Law
* Magonism
* Mutual aid
* Participatory politics
* Permanent autonomous zone
* Prefigurative politics
* Proletarian internationalism
* Propaganda of the deed
* Refusal of work
* Revolution
* Rewilding
* Security culture
* Self-ownership
* Social ecology
* Somatherapy
* Spontaneous order
* Squatting
* Temporary autonomous zone
* Union of egoists
People
* Armand
* Bakunin
* Berkman
* Bonanno
* Bookchin
* Chomsky
* Cleyre
* Durruti
* Faure
* Godwin
* Goldman
* Ferrer
* Kropotkin
* Landauer
* Magón
* Makhno
* Malatesta
* Michel
* Most
* Proudhon
* Rocker
* Santillán
* Spooner
* Stirner
* Thoreau
* Tolstoy
* Tucker
* Volin
* Ward
* Warren
* Zerzan
Issues
* Animal rights
* Veganism
* Capitalism
* Anarcho-capitalism
* Right-libertarianism
* Criticism
* Cryptography
* Education
* Islam
* Left-wing
* Lifestylism
* Love and sex
* Marxism
* Nationalism
* National-anarchism
* Orthodox Judaism
* Religion
* Violence
History
* Paris Commune
* Spanish Regional Federation of the IWA
* Cantonal Revolution
* Hague Congress
* International Conference of Rome
* Trial of the Thirty
* Haymarket affair
* May Day
* Anarchist Exclusion Act
* Congress of Amsterdam
* Tragic Week
* High Treason Incident
* Manifesto of the Sixteen
* Individualist anarchism in the United States
* 1919 United States bombings
* Biennio Rosso
* German Revolution of 1918–1919
* Bavarian Council Republic
* Kronstadt rebellion
* Third Russian Revolution
* Free Territory
* Amakasu Incident
* Escuela Moderna
* Individualist anarchism in Europe
* Spanish Revolution of 1936
* Barcelona May Days
* Red inverted triangle
* Labadie Collection
* May 1968
* Provo
* LIP
* Kate Sharpley Library
* Australian Anarchist Centenary
* Carnival Against Capital
* 1999 Seattle WTO protests
* Occupy movement
Culture
* A las Barricadas
* Anarchist Bookfair
* Anarcho-punk
* Arts
* Culture jamming
* DIY ethic
* Films
* Freeganism
* Glossary
* Independent Media Center
* The Internationale
* Jewish anarchism
* "Land and liberty"
* Lifestylism
* "No gods, no masters"
* Popular education
* "Property is theft!"
* Radical cheerleading
* Radical environmentalism
* Squatting
* Symbolism
Economics
* Communization
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In June 1919, Attorney General Palmer told the House Appropriations Committee that all evidence promised that radicals would "on a certain day...rise up and destroy the government at one fell swoop." He requested an increase in his budget to $2,000,000 from $1,500,000 to support his investigations of radicals, but Congress limited the increase to $100,000.[7]
An initial raid in July 1919 against an anarchist group in Buffalo, New York, achieved little when a federal judge tossed out Palmer's case. He found in the case that the three arrested radicals, charged under a law dating from the Civil War, had proposed transforming the government by using their free speech rights and not by violence.[8] That taught Palmer that he needed to exploit the more powerful immigration statutes that authorized the deportation of alien anarchists, violent or not. To do that, he needed to enlist the cooperation of officials at the Department of Labor. Only the Secretary of Labor could issue warrants for the arrest of alien violators of the Immigration Acts, and only he could sign deportation orders following a hearing by an immigration inspector.[9]
On August 1, 1919, Palmer named 24-year-old J. Edgar Hoover to head a new division of the Justice Department's Bureau of Investigation, the General Intelligence Division (GID), with responsibility for investigating the programs of radical groups and identifying their members.[10] The Boston Police Strike in early September raised concerns about possible threats to political and social stability. On October 17, the Senate passed a unanimous resolution demanding Palmer explain what actions he had or had not taken against radical aliens and why.[11]
At 9 pm on November 7, 1919, a date chosen because it was the second anniversary of the Bolshevik revolution, agents of the Bureau of Investigation, together with local police, executed a series of well-publicized and violent raids against the Union of Russian Workers in 12 cities. Newspaper accounts reported some were "badly beaten" during the arrests. Many later swore they were threatened and beaten during questioning. Government agents cast a wide net, bringing in some American citizens, passers-by who admitted being Russian, some not members of the Russian Workers. Others were teachers conducting night school classes in space shared with the targeted radical group. Arrests far exceeded the number of warrants. Of 650 arrested in New York City, the government managed to deport just 43.[12]
When Palmer replied to the Senate's questions of October 17, he reported that his department had amassed 60,000 names with great effort. Required by the statutes to work through the Department of Labor, they had arrested 250 dangerous radicals in the November 7 raids. He proposed a new Anti-Sedition Law to enhance his authority to prosecute anarchists.[13]
## Raids and arrests in January 1920[edit]
Men arrested in raids awaiting deportation hearings on Ellis Island, January 13, 1920
Cartoon by Archibald B. Chapin on the South Bend News-Times – November 8, 1919
As Attorney General Palmer struggled with exhaustion and devoted all his energies to the United Mine Workers coal strike in November and December 1919,[14] Hoover organized the next raids. He successfully persuaded the Department of Labor to ease its insistence on promptly alerting those arrested of their right to an attorney. Instead, Labor issued instructions that its representatives could wait until after the case against the defendant was established, "in order to protect government interests."[15] Less openly, Hoover decided to interpret Labor's agreement to act against the Communist Party to include a different organization, the Communist Labor Party. Finally, despite the fact that Secretary of Labor William B. Wilson insisted that more than membership in an organization was required for a warrant, Hoover worked with more compliant Labor officials and overwhelmed Labor staff to get the warrants he wanted. Justice Department officials, including Palmer and Hoover, later claimed ignorance of such details.[16]
The Justice Department launched a series of raids on January 2, 1920, with follow up operations over the next few days. Smaller raids extended over the next 6 weeks. At least 3000 were arrested, and many others were held for various lengths of time. The entire enterprise replicated the November action on a larger scale, including arrests and seizures without search warrants, as well as detention in overcrowded and unsanitary holding facilities. Hoover later admitted "clear cases of brutality."[17] The raids covered more than 30 cities and towns in 23 states, but those west of the Mississippi and south of the Ohio were "publicity gestures" designed to make the effort appear nationwide in scope.[18] Because the raids targeted entire organizations, agents arrested everyone found in organization meeting halls, not only arresting non-radical organization members but also visitors who did not belong to a target organization, and sometimes American citizens not eligible for arrest and deportation.[19]
The Department of Justice at one point claimed to have taken possession of several bombs, but after a few iron balls were displayed to the press they were never mentioned again. All the raids netted a total of just four ordinary pistols.[20]
While most press coverage continued to be positive, with criticism only from leftist publications like The Nation and The New Republic, one attorney raised the first noteworthy protest. Francis Fisher Kane, the U.S. Attorney for the Eastern District of Pennsylvania, resigned in protest. In his letter of resignation to the President and the Attorney General he wrote: "It seems to me that the policy of raids against large numbers of individuals is generally unwise and very apt to result in injustice. People not really guilty are likely to be arrested and railroaded through their hearings...We appear to be attempting to repress a political party...By such methods, we drive underground and make dangerous what was not dangerous before." Palmer replied that he could not use individual arrests to treat an "epidemic" and asserted his own fidelity to constitutional principles. He added: "The Government should encourage free political thinking and political action, but it certainly has the right for its own preservation to discourage and prevent the use of force and violence to accomplish that which ought to be accomplished, if at all, by parliamentary or political methods."[21] The Washington Post endorsed Palmer's claim for urgency over legal process: "There is no time to waste on hairsplitting over infringement of liberty."[22]
## Aftermath[edit]
In a few weeks, after changes in personnel at the Department of Labor, Palmer faced a new and very independent-minded Acting Secretary of Labor in Assistant Secretary of Labor Louis Freeland Post, who canceled more than 2,000 warrants as being illegal.[23] Of the 10,000 arrested, 3,500 were held by authorities in detention; 556 resident aliens were eventually deported under the Immigration Act of 1918.[24]
At a Cabinet meeting in April 1920, Palmer called on Secretary of Labor William B. Wilson to fire Post, but Wilson defended him. The President listened to his feuding department heads and offered no comment about Post, but he ended the meeting by telling Palmer that he should "not let this country see red." Secretary of the Navy Josephus Daniels, who made notes of the conversation, thought the Attorney General had merited the President's "admonition", because Palmer "was seeing red behind every bush and every demand for an increase in wages."[25]
Palmer's supporters in Congress responded with an attempt to impeach Louis Post or, failing that, to censure him. The drive against Post began to lose energy when Attorney General Palmer's forecast of an attempted radical uprising on May Day 1920 failed to occur. Then, in testimony before the House Rules Committee on May 7–8, Post proved "a convincing speaker with a caustic tongue"[23] and defended himself so successfully that Congressman Edward W. Pou, a Democrat presumed to be an enthusiastic supporter of Palmer, congratulated him: "I feel that you have followed your sense of duty absolutely."[26]
On May 28, 1920, the nascent American Civil Liberties Union (ACLU), which was founded in response to the raids,[27] published its Report Upon the Illegal Practices of the United States Department of Justice,[28] which carefully documented unlawful activities in arresting suspected radicals, illegal entrapment by agents provocateur, and unlawful incommunicado detention. Such prominent lawyers and law professors as Felix Frankfurter, Roscoe Pound and Ernst Freund signed it. Harvard Professor Zechariah Chafee criticized the raids and attempts at deportations and the lack of legal process in his 1920 volume Freedom of Speech. He wrote: "That a Quaker should employ prison and exile to counteract evil-thinking is one of the saddest ironies of our time."[29] The Rules Committee gave Palmer a hearing in June, where he attacked Post and other critics whose "tender solicitude for social revolution and perverted sympathy for the criminal anarchists...set at large among the people the very public enemies whom it was the desire and intention of the Congress to be rid of." The press saw the dispute as evidence of the Wilson administration's ineffectiveness and division as it approached its final months.[30]
In June 1920, a decision by Massachusetts District Court Judge George Anderson ordered the discharge of 17 arrested aliens and denounced the Department of Justice's actions. He wrote that "a mob is a mob, whether made up of Government officials acting under instructions from the Department of Justice, or of criminals and loafers and the vicious classes." His decision effectively prevented any renewal of the raids.[31]
Palmer, once seen as a likely presidential candidate, lost his bid to win the Democratic nomination for president later in the year.[32] The anarchist bombing campaign continued intermittently for another twelve years.[33]
## See also[edit]
* Espionage Act of 1917
* Industrial Workers of the World
* McCarthyism
## References[edit]
1. ^ https://www.history.com/topics/red-scare/palmer-raids
2. ^ Kennedy, 24
3. ^ Shepley, Nick (2015). The Palmer Raids and the Red Scare: 1918–1920: Justice and Liberty for All. Andrews UK Limited. pp. 18–19. ISBN 978-1-84989-944-4.
4. ^ a b c d e f Avrich, Paul, Sacco and Vanzetti: The Anarchist Background, Princeton University Press, ISBN 0-691-02604-1 (1991), pp. 140–143, 147, 149–156
5. ^ "Plotter Here Hid Trail Skillfully; His Victim Was A Night Watchman", The New York Times, 4 June 1919
6. ^ "Wreck Judge Nott's Home", The New York Times, 3 June 1919
7. ^ Hagedorn, 229–30; Coben, 211
8. ^ Pietruszka, 146–7
9. ^ Coben 217–8
10. ^ Coben, 207–9
11. ^ Coben, 214–5
12. ^ Coben, 219–21; Post, 28–35. Post says 11 cities.
13. ^ The New York Times: "Palmer for Stringent Law," November 16, 1919, accessed January 15, 2010
14. ^ "Miners Finally Agree" (PDF). The New York Times. December 11, 1919. Retrieved June 11, 2014.
15. ^ Coben, 222–3
16. ^ Murray, 223–7
17. ^ Murray, 227–9
18. ^ States (cities where available): California (Los Angeles, San Francisco), Colorado (Denver), Connecticut (Ansonia, Bridgeport, Hartford, Meriden, New Haven, New London, South Manchester, Waterbury), Florida, Illinois (Chicago, Rockford, East St. Louis), Indiana, Iowa (Des Moines), Kansas (Kansas City), Maine, Maryland, Massachusetts (Boston, Chelsea, Brockton, Bridgewater, Norwood, Worcester, Springfield, Chicopee Falls, Holyoke, Gardner, Fitchburg, Lowell, Lawrence, Haverhill), Michigan (Detroit), Minnesota (St. Paul), Nebraska (Omaha), New Hampshire (Claremont, Derry, Lincoln, Manchester, Nashua, Portsmouth), New Jersey (Camden), New York (Buffalo and "nearby towns", New York City), Ohio (Cleveland, Toledo, Youngstown), Oregon (Portland), Pennsylvania (Chester, Pittsburgh), Washington (Spokane), Wisconsin (Milwaukee, Racine). Others were arrested in West Virginia by agents working from Pittsburgh. Post, 91–2, 96, 104–5, 108, 110, 115–6, 120–1, 124, 126, 131
19. ^ Post, 96–147, passim
20. ^ Post, 91–5, 96–147
21. ^ Coben, 230; The New York Times: "Palmer Upholds Red Repression," January 24, 1920, accessed January 15, 2010,
22. ^ The Washington Post, "The Red Assassins," January 4, 1920
23. ^ a b Coben, 232
24. ^ Avakov, Aleksandr Vladimirovich, Plato's Dreams Realized: Surveillance and Citizen Rights from KGB to FBI, Algora Publishing, ISBN 0-87586-495-3, ISBN 978-0-87586-495-2 (2007), p. 36
25. ^ Daniels, 545–6
26. ^ Post, 273
27. ^ https://www.aclu.org/about/aclu-history
28. ^ Report Upon the Illegal Practices of the United States Department of Justice. National Popular Government League. 1920.
29. ^ Chafee, 197, ch. 5 "Deportations"
30. ^ Murray, 255–6
31. ^ Murray, 250–1; Post, 97
32. ^ Pietrusza, 257
33. ^ Avrich, 214
## General bibliography[edit]
* Avrich, Paul, Sacco and Vanzetti: The Anarchist Background (Princeton University Press, 1991)
* Chafee, Zechariah, Freedom of Speech (New York: Harcourt, Brace, and Howe, 1920)
* Coben, Stanley, A. Mitchell Palmer: Politician (New York: Columbia University Press, 1963)
* Daniels, Josephus, The Wilson Era: Years of War and After, 1917–1923 (Chapel Hill: University of North Carolina Press, 1946)
* Dunn, Robert W. The Palmer Raids. New York: International Publishers. 1948.
* Finan, Christopher M., From the Palmer Raids to the Patriot Act: A history of the fight for free speech in America (Boston: Beacon Press, 2007)
* Hagedorn, Ann, Savage Peace: Hope and Fear in America, 1919 (New York: Simon & Schuster, 2007)
* Kennedy, David M., Over Here: The First World War and American Society (New York: Oxford University Press, 1980)
* Murray, Robert K., Red Scare: A Study in National Hysteria, 1919–1920 (Minneapolis: University of Minnesota Press, 1955)
* Pietrusza, David, 1920: The Year of Six presidents (New York: Carroll & Graf, 2007)
* Post, Louis F., The Deportations Delirium of Nineteen-twenty: A Personal Narrative of a Historic Official Experience (New York, 1923), reissued: ISBN 0-306-71882-0, ISBN 1-4102-0553-3
## External links[edit]
* Media related to Palmer Raids at Wikimedia Commons
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*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
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*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
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*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
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*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
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*[Deaths per 100k]: Deaths per 100,000 county population
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*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
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*[a.k.a.]: also known as
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*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Palmer Raids
|
None
| 27,198 |
wikipedia
|
https://en.wikipedia.org/wiki/Palmer_Raids
| 2021-01-18T18:45:33 |
{"wikidata": ["Q1759544"]}
|
A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-aminobutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
|
Brachydactyly type B
|
c1300267
| 27,199 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93383
| 2021-01-23T18:37:32 |
{"gard": ["985"], "omim": ["113000", "611377"], "umls": ["C1300267"], "icd-10": ["Q73.8"]}
|
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